- Mar 2021
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 100; 0.1 µM: 65; 0.8 µM: 18; 1 µM: 15
AssayResultAssertion: Abnormal
Approximation: Exact cisplatin concentrations and assay result values not reported; values estimated from Figures 4b and 4d.
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Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 80; 0.1 µM: 52; 0.8 µM: 18; 1 µM: 5
AssayResultAssertion: Abnormal
Approximation: Exact cisplatin concentrations and assay result values not reported; values estimated from Figures 4b and 4d.
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Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 102; 0.1 µM: 65; 0.8 µM: 18; 1 µM: 10
AssayResultAssertion: Abnormal
Approximation: Exact cisplatin concentrations and assay result values not reported; values estimated from Figures 4b and 4d.
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Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 85; 0.1 µM: 40; 0.8 µM: 20; 1 µM: 13
AssayResultAssertion: Abnormal
Approximation: Exact cisplatin concentrations and assay result values not reported; values estimated from Figures 4b and 4d.
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Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 90; 0.1 µM: 60; 0.8 µM: 15; 1 µM: 15
AssayResultAssertion: Abnormal
Approximation: Exact cisplatin concentrations and assay result values not reported; values estimated from Figures 4b and 4d.
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Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 70; 0.08 µM: 50; 0.8 µM: 40; 8 µM: 15
AssayResultAssertion: Abnormal
Approximation: Exact Olaparib concentrations and assay result values not reported; values estimated from Figures 4a and 4c.
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Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 50; 0.08 µM: 35; 0.8 µM: 25; 8 µM: 10
AssayResultAssertion: Abnormal
Approximation: Exact Olaparib concentrations and assay result values not reported; values estimated from Figures 4a and 4c.
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Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 60; 0.08 µM: 55; 0.8 µM: 40; 8 µM: 15
AssayResultAssertion: Abnormal
Approximation: Exact Olaparib concentrations and assay result values not reported; values estimated from Figures 4a and 4c.
Comment: This variant was used as an abnormal control in other assays in this publication, but it was not specifically designated as a control in this assay.
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Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 65; 0.08 µM: 50; 0.8 µM: 30; 8 µM: 20
AssayResultAssertion: Abnormal
Approximation: Exact Olaparib concentrations and assay result values not reported; values estimated from Figures 4a and 4c.
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Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 50; 0.08 µM: 40; 0.8 µM: 20; 8 µM: 15
AssayResultAssertion: Abnormal
Approximation: Exact Olaparib concentrations and assay result values not reported; values estimated from Figures 4a and 4c.
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Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 90; 0.08 µM: 80; 0.8 µM: 75; 8 µM: 35
AssayResultAssertion: Normal
ControlType: Normal; wild type PALB2 cDNA
Approximation: Exact Olaparib concentrations and assay result values not reported; values estimated from Figures 4a and 4c.
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Cells reconstituted with WT-PALB2 showed substantially less sensitivity to olaparib than cells expressing p.A1025R and p.I944N (Fig. 4a). Similar results were observed for cisplatin treatment, although the difference in sensitivity was less pronounced (Fig. 4b). p.L24S, p.L1070P, and p.L35P were also associated with greater sensitivity to olaparib (Fig. 4c) and cisplatin (Fig. 4d) than WT-PALB2.
AssayResult: 0.01 µM: 102; 0.1 µM: 85; 0.8 µM: 55; 1 µM: 25
AssayResultAssertion: Normal
ControlType: Normal; wild type PALB2 cDNA
Approximation: Exact cisplatin concentrations and assay result values not reported; values estimated from Figures 4b and 4d.
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Viability assayPALB2 variants were introduced into B400 cells using mCherry-pOZC expression vector and flow cytometry for Cherry-red was performed to select for cells expressing PALB2. Sorted cells were plated in 96-well plates and exposed to increasing amounts of Olaparib or cisplatin and incubated for a period of 5 days. Presto Blue (Invitrogen) was added and incubated for 1–2 hours before measuring fluorescence intensity on a Cytation 3 microplate reader (BioTek).
AssayGeneralClass: BAO:0003009 cell viability assay
AssayMaterialUsed: CLO:0036938 tumor-derived cell line
AssayDescription: Transient expression of wild type and variant mCherry-tagged PALB2 cDNA constructs in Trp53 and Palb2-null mouse cell line; exposure to increasing concentrations of cisplatin for 5 days induces interstrand-crosslink DNA damage; cell survival is determined by measuring fluorescence intensity after staining with a cell viability reagent.
AssayReadOutDescription: Percent cell survival after treatment with cisplatin
AssayRange: %
AssayNormalRange: Cisplatin resistance levels comparable to that of cells expressing wild type PALB2; no numeric threshold given
AssayAbnormalRange: Not reported
AssayIndeterminateRange: Not reported
ValidationControlPathogenic: 0
ValidationControlBenign: 0
Replication: Not reported
StatisticalAnalysisDescription: Not reported
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WT-PALB2 was associated with robust formation of damage-induced RAD51 foci, whereas the four variants were associated with defective foci formation (Fig. 3d, e).
AssayResult: 1.5
AssayResultAssertion: Abnormal
Approximation: Exact assay result value not reported; value estimated from Figure 3e.
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WT-PALB2 was associated with robust formation of damage-induced RAD51 foci, whereas the four variants were associated with defective foci formation (Fig. 3d, e).
AssayResult: <1
AssayResultAssertion: Abnormal
Approximation: Exact assay result value not reported; value estimated from Figure 3e.
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WT-PALB2 was associated with robust formation of damage-induced RAD51 foci, whereas the four variants were associated with defective foci formation (Fig. 3d, e).
AssayResult: 1
AssayResultAssertion: Abnormal
Approximation: Exact assay result value not reported; value estimated from Figure 3e.
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WT-PALB2 was associated with robust formation of damage-induced RAD51 foci, whereas the four variants were associated with defective foci formation (Fig. 3d, e).
AssayResult: 3
AssayResultAssertion: Abnormal
Approximation: Exact assay result value not reported; value estimated from Figure 3e.
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WT-PALB2 was associated with robust formation of damage-induced RAD51 foci, whereas the four variants were associated with defective foci formation (Fig. 3d, e).
AssayResult: 1
AssayResultAssertion: Abnormal
ControlType: Abnormal; empty vector
Approximation: Exact assay result value not reported; value estimated from Figure 3e.
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WT-PALB2 was associated with robust formation of damage-induced RAD51 foci, whereas the four variants were associated with defective foci formation (Fig. 3d, e).
AssayResult: 27
AssayResultAssertion: Normal
StandardDeviation: 14
ControlType: Normal; wild type PALB2 cDNA
Approximation: Exact assay result and standard deviation values not reported; values estimated from Figure 3e.
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 0
ControlType: Normal; wild type PALB2 cDNA
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 0.5
AssayResultAssertion: Abnormal
StandardErrorMean: 0.03
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 0.5
AssayResultAssertion: Abnormal
StandardErrorMean: 0.05
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 0.6
AssayResultAssertion: Abnormal
StandardErrorMean: 0.15
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 0.6
AssayResultAssertion: Abnormal
StandardErrorMean: 0.07
Comment: This variant was reported as c.2145_2146delT p.(Asp715Glufs2), however the numbering implies the deletion of two nucleotides. The deletion of TA, c.2145_2146delTA, gives the reported protein change (p.(Asp715Glufs2), and was assumed to be the intended variant. Use this evidence with caution.
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 0.8
AssayResultAssertion: Abnormal
StandardErrorMean: 0.14
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 0.8
AssayResultAssertion: Abnormal
StandardErrorMean: 0.13
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 1
AssayResultAssertion: Abnormal
StandardErrorMean: 0
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 1.5
AssayResultAssertion: Abnormal
StandardErrorMean: 0.16
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 1.7
AssayResultAssertion: Abnormal
StandardErrorMean: 0.34
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 1.7
AssayResultAssertion: Abnormal
StandardErrorMean: 0.84
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 2.4
AssayResultAssertion: Abnormal
StandardErrorMean: 0.22
Comment: This variant is reported as a potential hypomorphic variant.
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 3
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.32
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 3.6
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.28
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 3.6
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.01
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 3.6
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.11
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 3.7
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.13
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 3.8
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.18
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 3.9
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.04
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.1
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.32
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.07
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.16
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.1
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.56
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.02
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.21
Comment: This variant was reported as c.398C>G p.(Ser133Thr), however the given allele from reference sequence is incorrect and does not match the actual sequence at the given position. The opposite nucleotide change, c.398G>C, gives the reported protein change (p.(Ser133Thr)), and was assumed to be the intended variant. Use this evidence with caution.
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.02
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.09
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.4
AssayResultAssertion: Normal
StandardErrorMean: 0.39
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.5
AssayResultAssertion: Normal
StandardErrorMean: 0.23
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.5
AssayResultAssertion: Normal
StandardErrorMean: 0.16
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.6
AssayResultAssertion: Normal
StandardErrorMean: 0.09
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.6
AssayResultAssertion: Normal
StandardErrorMean: 0.57
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.6
AssayResultAssertion: Normal
StandardErrorMean: 0.57
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.6
AssayResultAssertion: Normal
StandardErrorMean: 0.32
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.7
AssayResultAssertion: Normal
StandardErrorMean: 0.13
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.7
AssayResultAssertion: Normal
StandardErrorMean: 0.32
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.7
AssayResultAssertion: Normal
StandardErrorMean: 0.1
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.7
AssayResultAssertion: Normal
StandardErrorMean: 0.1
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.7
AssayResultAssertion: Normal
StandardErrorMean: 0.92
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.7
AssayResultAssertion: Normal
StandardErrorMean: 0.06
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.7
AssayResultAssertion: Normal
StandardErrorMean: 0.11
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.8
AssayResultAssertion: Normal
StandardErrorMean: 0.23
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.8
AssayResultAssertion: Normal
StandardErrorMean: 0.79
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.8
AssayResultAssertion: Normal
StandardErrorMean: 0.24
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.8
AssayResultAssertion: Normal
StandardErrorMean: 0.67
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.29
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.93
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.44
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.71
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.01
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.08
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.04
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.49
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.57
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.27
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.32
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.1
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 0.6
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 0.08
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 0.15
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 1.01
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 0.58
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 0.32
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 1.21
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.1
AssayResultAssertion: Normal
StandardErrorMean: 0.56
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.1
AssayResultAssertion: Normal
StandardErrorMean: 0.7
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.1
AssayResultAssertion: Normal
StandardErrorMean: 1
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.2
AssayResultAssertion: Normal
StandardErrorMean: 0.39
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.2
AssayResultAssertion: Normal
StandardErrorMean: 0.1
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.2
AssayResultAssertion: Normal
StandardErrorMean: 0.33
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.2
AssayResultAssertion: Normal
StandardErrorMean: 0.7
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.3
AssayResultAssertion: Normal
StandardErrorMean: 0.84
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.3
AssayResultAssertion: Normal
StandardErrorMean: 0.46
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.4
AssayResultAssertion: Normal
StandardErrorMean: 0.13
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.6
AssayResultAssertion: Normal
StandardErrorMean: 0.16
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.8
AssayResultAssertion: Normal
StandardErrorMean: 1.15
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.8
AssayResultAssertion: Normal
StandardErrorMean: 0.1
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6
AssayResultAssertion: Normal
StandardErrorMean: 0.13
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6.2
AssayResultAssertion: Normal
StandardErrorMean: 1.39
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6.4
AssayResultAssertion: Normal
StandardErrorMean: 0.45
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6.4
AssayResultAssertion: Normal
StandardErrorMean: 0.96
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6.5
AssayResultAssertion: Normal
StandardErrorMean: 1.55
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6.6
AssayResultAssertion: Normal
StandardErrorMean: 0.05
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6.6
AssayResultAssertion: Normal
StandardErrorMean: 0.8
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6.9
AssayResultAssertion: Normal
StandardErrorMean: 0.35
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 7.1
AssayResultAssertion: Normal
StandardErrorMean: 0.43
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 7.2
AssayResultAssertion: Normal
StandardErrorMean: 0.01
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 7.3
AssayResultAssertion: Normal
StandardErrorMean: 0.08
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 7.5
AssayResultAssertion: Normal
StandardErrorMean: 0.61
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 7.7
AssayResultAssertion: Normal
StandardErrorMean: 0.15
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 7.7
AssayResultAssertion: Normal
StandardErrorMean: 0.15
Tags
- Variant:4
- ClinVarID:126683
- ClinVarID:141256
- CAID:CA288475
- Variant:60
- Variant:86
- CAID:CA151222
- Variant:15
- CAID:CA269551
- ClinVarID:232905
- CAID:CA170010
- ClinVarID:126742
- Variant:49
- FuncAssay:2
- Variant:59
- CAID:CA269483
- CGType:FunctionalAssayResult
- ClinVarID:230588
- ClinVarID:186939
- Variant:38
- ClinVarID:657328
- ClinVarID:419370
- CAID:CA7963465
- CG:BulkAnnotation
- Variant:51
- UO:0000187
- ClinVarID:182775
- CAID:CA168538
- Variant:10
- CAID:CA269622
- Variant:2
- ClinVarID:241525
- Variant:63
- ValidationControl:WildType
- ClinVarID:126670
- CAID:CA923726356
- ClinVarID:480232
- Variant:18
- Variant:50
- CAID:CA251717
- CAID:CA161336
- Variant:7
- Variant:5
- CAID:CA395139751
- Variant:58
- Variant:1
- Variant:54
- CAID:CA167348
- CAID:CA269619
- Variant:30
- ClinVarID:185108
- Variant:20
- Variant:71
- CAID:CA7963617
- CAID:CA163734
- Variant:44
- Variant:33
- Variant:66
- ClinVarID:126731
- ClinVarID:128138
- CAID:CA395139263
- CAID:CA151233
- ClinVarID:570698
- Variant:48
- CAID:CA196291
- Variant:9
- CAID:CA161327
- CAID:CA10579934
- Variant:90
- Variant:28
- Variant:17
- CAID:CA10579945
- ClinVarID:141936
- CAID:CA151236
- ClinVarID:186840
- Variant:42
- ClinVarID:126582
- CAID:CA164933
- Variant:70
- MONDO:0016419
- CAID:CA395137415
- Variant:26
- Variant:39
- Variant:22
- Variant:32
- ClinVarID:126738
- Variant:92
- ClinVarID:136133
- ClinVarID:142465
- ClinVarID:232317
- CAID:CA348301
- FuncAssay:3
- CAID:CA294118
- Variant:88
- Variant:16
- CAID:CA294144
- CAID:CA151239
- CAID:CA395137900
- Variant:35
- Variant:3
- CAID:CA294249
- Variant:14
- ClinVarID:232781
- CAID:CA10580016
- Variant:52
- Variant:74
- ClinVarID:182770
- ClinVarID:126613
- ClinVarID:126780
- BAO:0003009
- ClinVarID:126669
- Variant:78
- ClinVarID:220218
- ClinVarID:143008
- ClinVarID:126630
- Variant:45
- Variant:69
- Variant:85
- CAID:CA197176
- Variant:75
- CAID:CA288435
- ClinVarID:126595
- HGNC:26144
- CAID:CA166991
- ClinVarID:216752
- Variant:83
- ClinVarID:185069
- CAID:CA168345
- CAID:CA299750
- Variant:8
- Variant:6
- CLO:0036938
- Variant:43
- CAID:CA269625
- CAID:CA288451
- CAID:CA288460
- CAID:CA299747
- ClinVarID:141974
- AssayControl:Normal
- CAID:CA7963665
- CAID:CA167019
- Variant:68
- ClinVarID:241560
- CAID:CA7963328
- ClinVarID:126734
- Variant:56
- ClinVarID:126767
- ClinVarID:186029
- CAID:CA7963488
- CAID:CA193659
- ClinVarID:142048
- CAID:CA161333
- CAID:CA151242
- CAID:CA10583351
- ClinVarID:126777
- ClinVarID:126739
- ClinVarID:183828
- CAID:CA7963440
- ClinVarID:182774
- Variant:64
- FuncAssay:4
- ClinVarID:142079
- ClinVarID:142504
- Variant:24
- ClinVarID:182773
- Variant:37
- CAID:CA196017
- Variant:80
- Variant:77
- ClinVarID:582957
- CAID:CA269636
- CAID:CA161330
- CAID:CA269610
- Variant:76
- Variant:82
- CAID:CA269522
- ClinVarID:141320
- ClinVarID:126674
- Variant:12
- CAID:CA168501
- CAID:CA288488
- CAID:CA169555
- ClinVarID:128144
- ClinVarID:126591
- Variant:53
- Variant:13
- ClinVarID:126747
- ClinVarID:217917
- CAID:CA191499
- ClinVarID:1243
- ClinVarID:232977
- CAID:CA331796
- ClinVarID:482010
- ClinVarID:126732
- CAID:CA279502031
- Variant:40
- Variant:41
- CAID:CA277851
- ClinVarID:126682
- CAID:CA269663
- Variant:46
- CAID:CA10583357
- Variant:19
- CAID:CA333921
- ClinVarID:126761
- AssayRangeType:Quantitative
- ClinVarID:126779
- Variant:34
- ClinVarID:126699
- ClinVarID:126709
- ClinVarID:126647
- CAID:CA151230
- CAID:CA288441
- Variant:47
- ClinVarID:128134
- CAID:CA279533895
- CAID:CA10579994
- ClinVarID:126741
- CAID:CA288472
- ClinVarID:241550
- Variant:11
- ClinVarID:233127
- Variant:62
- CAID:CA10580054
- ClinVarID:126638
- ClinVarID:185273
- CAID:CA186642
- CAID:CA299753
- ClinVarID:21675
- ClinVarID:184941
- CAID:CA269558
- Variant:23
- CAID:CA299737
- CAID:CA190537
- Variant:55
- Variant:81
- ClinVarID:126755
- Variant:72
- ClinVarID:126774
- CAID:CA339433
- ClinVarID:187262
- Variant:84
- CAID:CA7963609
- ClinVarID:126782
- Variant:67
- CAID:CA168427
- FuncAssay:1
- ValidationControl:Pathogenic
- Variant:65
- Variant:61
- Variant:91
- ClinVarID:230665
- CAID:CA190922
- Variant:79
- ClinVarID:126594
- ClinVarID:126746
- ClinVarID:126590
- ClinVarID:126726
- ClinVarID:188058
- Variant:31
- Variant:29
- ClinVarID:126652
- CAID:CA166841
- Variant:73
- CAID:CA191059
- Variant:25
- CAID:CA151212
- CAID:CA288386
- ClinVarID:140850
- ClinVarID:126640
- ClinVarID:229738
- AssayControl:Abnormal
- CAID:CA269666
- ClinVarID:126716
- Variant:21
- ValidationControl:Benign
- CAID:CA269645
- CAID:CA299799
- ClinVarID:245657
- Variant:89
- Variant:57
- ClinVarID:241553
- Variant:36
- CAID:CA16620143
- CAID:CA151249
- ClinVarID:225856
- Variant:87
- CAID:CA269654
- CAID:CA288398
- CAID:CA10583375
- Variant:27
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
SUPPLEMENTARY DATA
AssayResult: 5
AssayResultAssertion: Abnormal
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
ControlType: Abnormal; empty vector
-
SUPPLEMENTARY DATA
AssayResult: 100
AssayResultAssertion: Normal
ControlType: Normal; wild type PALB2 cDNA
-
SUPPLEMENTARY DATA
AssayResult: 34
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: 68
AssayResultAssertion: Indeterminate
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 90
AssayResultAssertion: Normal
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 46
AssayResultAssertion: Indeterminate
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 23.6
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: 82
AssayResultAssertion: Normal
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 53
AssayResultAssertion: Indeterminate
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 41
AssayResultAssertion: Indeterminate
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 95
AssayResultAssertion: Normal
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 90
AssayResultAssertion: Normal
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 83
AssayResultAssertion: Not reported
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 77
AssayResultAssertion: Indeterminate
PValue: < 0.01
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 81
AssayResultAssertion: Not reported
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 38
AssayResultAssertion: Abnormal
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 5
AssayResultAssertion: Abnormal
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 36
AssayResultAssertion: Abnormal
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 85
AssayResultAssertion: Not reported
PValue: Not reported
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: 58
AssayResultAssertion: Indeterminate
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: -96
AssayResultAssertion: Abnormal
PValue: < 0.0001
ControlType: Abnormal; empty vector
-
SUPPLEMENTARY DATA
AssayResult: 0
AssayResultAssertion: Normal
ControlType: Normal; wild type PALB2 cDNA
-
SUPPLEMENTARY DATA
AssayResult: -34
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: -11
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -4
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -14
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -56
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: -6
AssayResultAssertion: Normal
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -25
AssayResultAssertion: Abnormal
PValue: < 0.01
-
SUPPLEMENTARY DATA
AssayResult: -31
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: -16
AssayResultAssertion: Normal
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -10
AssayResultAssertion: Normal
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -21
AssayResultAssertion: Indeterminate
PValue: < 0.01
-
SUPPLEMENTARY DATA
AssayResult: -20
AssayResultAssertion: Indeterminate
PValue: < 0.05
-
SUPPLEMENTARY DATA
AssayResult: 8
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -29
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: -98
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: -36
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: 3
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -32
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: 48
AssayResultAssertion: Abnormal
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 1D.
ControlType: Abnormal; empty vector
-
SUPPLEMENTARY DATA
AssayResult: 100
AssayResultAssertion: Normal
ControlType: Normal; wild type PALB2 cDNA
-
SUPPLEMENTARY DATA
AssayResult: 106
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 108.6
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 64.45
AssayResultAssertion: Abnormal
PValue: < 0.0001
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 84.49
AssayResultAssertion: Indeterminate
PValue: 0.0058
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 92.43
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 88.66
AssayResultAssertion: Not reported
PValue: 0.727
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 96.63
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 97.59
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 94.36
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 98.94
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 87.19
AssayResultAssertion: Not reported
PValue: 0.341
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 98.25
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 57.61
AssayResultAssertion: Abnormal
PValue: < 0.0001
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 109.2
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 95.47
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 97.77
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 103.5
AssayResultAssertion: Normal
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 100.7
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 102.6
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 77.32
AssayResultAssertion: Indeterminate
PValue: 0.0002
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 82.22
AssayResultAssertion: Indeterminate
PValue: 0.004
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 96.97
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 102.1
AssayResultAssertion: Normal
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 101.6
AssayResultAssertion: Normal
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 109.7
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 109.4
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 107.5
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 100.5
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 103.3
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 108.7
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 106.8
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 94.01
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 92.68
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 92.03
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 93.06
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 86.49
AssayResultAssertion: Not reported
PValue: 0.3376
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 76.21
AssayResultAssertion: Indeterminate
PValue: 0.0001
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 85.76
AssayResultAssertion: Indeterminate
PValue: 0.0445
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 47.64
AssayResultAssertion: Abnormal
PValue: < 0.0001
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 86.51
AssayResultAssertion: Not reported
PValue: 0.2166
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 97.46
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 91.53
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 82.06
AssayResultAssertion: Indeterminate
PValue: 0.0058
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 76.45
AssayResultAssertion: Indeterminate
PValue: 0.0001
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 86.74
AssayResultAssertion: Not reported
PValue: 0.1836
Comment: Exact values reported in Table S3.
Tags
- Variant:4
- ClinVarID:126683
- CAID:CA161315
- ClinVarID:183828
- ClinVarID:182774
- Variant:15
- Variant:24
- ClinVarID:487020
- CAID:CA196624
- Variant:37
- FuncAssay:2
- ClinVarID:582957
- CAID:CA269636
- CGType:FunctionalAssayResult
- CAID:CA269610
- Variant:38
- ClinVarID:657328
- CAID:CA7963465
- CG:BulkAnnotation
- CAID:CA168501
- Variant:2
- Variant:12
- Variant:10
- ClinVarID:126708
- ValidationControl:WildType
- CAID:CA288504
- Variant:18
- Variant:13
- ClinVarID:126747
- ClinVarID:217917
- CAID:CA279500276
- Variant:7
- ClinVarID:232977
- Variant:5
- CAID:CA331796
- ClinVarID:126743
- Variant:1
- CAID:CA279502031
- CAID:CA269619
- Variant:41
- Variant:40
- Variant:30
- ClinVarID:220168
- Variant:20
- CAID:CA277851
- ClinVarID:126693
- ClinVarID:126682
- CAID:CA269663
- Variant:33
- Variant:44
- Variant:19
- CAID:CA151233
- CAID:CA395139263
- ClinVarID:126761
- ClinVarID:128124
- Variant:34
- ClinVarID:126699
- ClinVarID:126779
- CAID:CA395139336
- Variant:9
- CAID:CA161318
- ClinVarID:126647
- CAID:CA10579934
- CAID:CA288441
- CAID:CA161321
- CAID:CA395139432
- Variant:28
- CAID:CA395140053
- Variant:17
- ClinVarID:126741
- CAID:CA151236
- Variant:42
- Variant:11
- CAID:CA269585
- Variant:26
- Variant:39
- CAID:CA186642
- Variant:22
- Variant:32
- ClinVarID:126738
- Variant:23
- ClinVarID:126781
- ClinVarID:126755
- Variant:16
- FuncAssay:3
- Variant:35
- ClinVarID:126774
- CAID:CA151239
- Variant:14
- Variant:3
- ClinVarID:126782
- FuncAssay:1
- ClinVarID:657666
- ClinVarID:128150
- ValidationControl:Pathogenic
- CAID:CA395144524
- ClinVarID:126669
- CAID:CA288392
- Variant:29
- CAID:CA279500159
- Variant:31
- ClinVarID:126590
- ClinVarID:126652
- CAID:CA7963442
- ClinVarID:126593
- Variant:45
- CAID:CA348162
- ClinVarID:126758
- Variant:25
- ClinVarID:126760
- CAID:CA288386
- AssayControl:Abnormal
- CAID:CA269666
- ClinVarID:126716
- ClinVarID:126727
- Variant:21
- CAID:CA239946
- ClinVarID:188387
- ValidationControl:Benign
- CAID:CA7963418
- CAID:CA299750
- Variant:8
- ClinVarID:126731
- Variant:43
- CAID:CA299799
- CAID:CA269625
- ClinVarID:187058
- Variant:6
- AssayControl:Normal
- ClinVarID:241553
- CAID:CA331799
- Variant:36
- CAID:CA193686
- CAID:CA294183
- ClinVarID:422560
- CAID:CA269654
- Variant:27
- CAID:CA334766
- CAID:CA161333
- CAID:CA151242
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.
AssayResult: 19.52 foci/cell
AssayResultAssertion: Indeterminate (described as "minor effect")
Range: 0 - 70
Comment: Exact values reported in "Source Data" file
-
While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.
AssayResult: 15.80 foci/cell
AssayResultAssertion: Indeterminate (described as "minor effect")
Range: 0 - 74
Comment: Exact values reported in "Source Data" file
-