- 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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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
-
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.
-
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
Tags
- CAID:CA10580054
- CAID:CA923726356
- ClinVarID:187262
- ValidationControl:WildType
- CAID:CA279502031
- Variant:92
- HGNC:26144
- AssayRangeType:Quantitative
- Variant:4
- CLO:0036938
- BAO:0003009
- Variant:56
- FuncAssay:2
- FuncAssay:3
- ClinVarID:230588
- CAID:CA197176
- CG:BulkAnnotation
- CGType:FunctionalAssayResult
- Variant:85
- ClinVarID:657328
- ClinVarID:216752
- CAID:CA339433
- FuncAssay:4
- MONDO:0016419
- AssayControl:Normal
- Variant:42
- FuncAssay:1
- UO:0000187
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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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: 8
AssayResultAssertion: Indeterminate
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: 76.21
AssayResultAssertion: Indeterminate
PValue: 0.0001
Comment: Exact values reported in Table S3.
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-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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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
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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
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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: 13.96 foci/cell
AssayResultAssertion: Abnormal
Range: 0 - 69
Comment: Exact values reported in "Source Data" file
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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: 3.19 foci/cell
AssayResultAssertion: abnormal
Range: 0 - 32
Comment: Exact values reported in "Source Data" file
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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: 1.24 foci/cell
AssayResultAssertion: Abnormal
Range: 0 - 25
Comment: Exact values reported in "Source Data" file
-
Following exposure to IR, the average number of RAD51 foci was scored in cyclin-A- and YFP-PALB2-expressing S-phase cells
AssayResult: 24.90 foci/cell
AssayResultAssertion: Normal
Range: 1 - 90
ControlType: Normal; wild type PALB2 cDNA
Comment: Exact values reported in "Source Data" file
-
To further assess the impact of the 5 selected VUS on PALB2, we examined whether they affected the accumulation of RAD51 at IR-induced DSBs by measuring the formation RAD51 foci.
AssayGeneralClass: BAO:0000450 fluorescence microscopy
AssayMaterialUsed: CLO:0003684 HeLa cell
AssayDescription: Transient expression of wild type and variant PALB2 cDNA constructs in HeLa cells following PALB2 siRNA knockdown; exposure ionizing radiation induces DNA damage; RAD51 foci formation is measured by immunofluorescence microscopy 4 h after irradiation
AssayReadOutDescription: Number of RAD51 foci per S-phase cell (determined by cyclin A detection)
AssayRange: foci/cell
AssayNormalRange: RAD51 foci numbers comparable to that of cells expressing wild type PALB2; no numeric threshold given
AssayAbnormalRange: RAD51 foci numbers comparable to that of cells expressing empty vector; no numeric threshold given
AssayIndeterminateRange: Not reported
ValidationControlPathogenic: 0
ValidationControlBenign: 0
Replication: 3 independent experiments
StatisticalAnalysisDescription: Not reported
-
Source Data
AssayResult: 83.16
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 0.2
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 67.82
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 10.97
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 44.9
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 9.75
StandardErrorMean: 6.89
Comment: Exact values reported in “Source Data” file.
Tags
- CAID:CA288386
- ValidationControl:WildType
- Variant:41
- HGNC:26144
- CAID:CA279530867
- AssayRangeType:Quantitative
- CAID:CA195974
- CAID:CA395121845
- Variant:4
- FuncAssay:2
- CAID:CA395144928
- BAO:0000450
- Variant:34
- FuncAssay:3
- CGType:FunctionalAssay
- CGType:FunctionalAssayResult
- ClinVarID:126590
- MONDO:0016419
- CAID:CA7963465
- Variant:37
- CLO:0003684
- FuncAssay:4
- Variant:54
- AssayControl:Normal
- Variant:42
- FuncAssay:1
- CG:BulkAnnotation
Annotators
URL
-
-
www.cell.com www.cell.com
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.1
AssayResultAssertion: Abnormal
ReplicateCount: 19
StandardErrorMean: 0.1
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1. (Personal communication: A. Glazer)
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jmg.bmj.com jmg.bmj.com
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We then applied the p53 functional assay on blood samples sent to our laboratory for TP53 molecular analysis (NGS screening of the 11 exons complemented by QMPSF). Molecular and functional analyses were performed in parallel, in double blind conditions.
AssayGeneralClass: BAOCL:20:0010044 targeted transcriptional assay
AssayMaterialUsed: CL:2000001 peripheral blood mononuclear cell from patients
AssayDescription: Comparative transcriptomic analysis using reverse transcription to compare peripheral blood mononuclear cells of patients with wild type or pathogenic TP53 variants in the context of genotoxic stress induced by doxorubicin treatment. p53 RNA levels were evaluated and expressed as a percentage of the mean levels obtained for the three wild-type TP53 individuals.
AdditionalDocument: PMID: 23172776
AssayReadOutDescription: The p53 mRNA levels were expressed as a ratio of the normal values obtained for 3 TP53 wild-type control individuals.
AssayRange: UO:0000187 the p53 RNA levels were evaluated and expressed as a percentage of the mean levels obtained for three wild-type TP53 individuals.
AssayNormalRange: >65%
AssayAbnormalRange: <65%
AssayIndeterminateRange: N/A
AssayNormalControl: wild type TP53
AssayAbnormalControl: LFS patient cells
ValidationControlPathogenic: 8 individuals had seven distinct TP53 variants which could be considered as likely pathogenic or pathogenic based on their ClinVar classification or their truncating nature.
ValidationControlBenign: 51 individuals had no detectable germline TP53 variant
Replication: at least two wells were seeded per patient (treated and untreated) and duplicates or triplicates were performed whenever possible.
StatisticalAnalysisDescription: Differentially expressed genes between doxorubicin-treated and untreated cells were arbitrarily defined using, as filters, a P<0.01 and fold-change cutoffs >2 or <2, for up and down regulation, respectively. The resultant signal information was analyzed using one-way analysis of variance (ANOVA, P= 0.001), assuming normality but not equal variances with a Benjamani–Hochberg correction for multiple comparisons using three groups: controls, null, and missense mutations.
SignificanceThreshold: P=0.001
Comment: statistical analysis and P value from previous publication.
-
- Feb 2021
-
jmg.bmj.com jmg.bmj.com
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Supplemental material
AssayResult: 111
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 69, 73
AssayResultAssertion: Normal
Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the variant in homozygosity.
-
Supplemental material
AssayResult: 100
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 95
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 80, 99
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 94
AssayResultAssertion: Normal
Comment: See Table S3 for details; This variant was reported as c.323_235del but assumed to be c.323_325del, which corresponds to the reported protein change (p.(Gly108_Phe109delinsVal)).
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Supplemental material
AssayResult: 101, 106
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 89, 90
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 88
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 79
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 78
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 90
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 86
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 78
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 83
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 82
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 86
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 118
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 62
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 56, 52
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 61
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 101
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 98
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 102
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 81
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 96
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 102
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 105
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 85
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 88
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 95
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 99
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 125
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 115
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 84
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 75
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 88
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 79
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 84
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 91
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 86
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 102
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 80
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 90
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 85
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 90
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 116
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 103
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 89
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 96
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 100
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 122
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 84
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 97
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 78
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 79
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 94
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 98
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 86
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 78
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 95
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 89
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 92
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 95
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 74
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 83
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 84
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 95
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 82
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 100
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 117
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 86
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 112
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 87
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 92
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 84
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 5.5, 5.7
AssayResultAssertion: Abnormal
Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the variant in homozygosity.
-
Supplemental material
AssayResult: 52
AssayResultAssertion: Abnormal
Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the c.723del variant in combination with the c.*1175A>C variant in heterozygosity.
Tags
- Variant:10
- CAID:CA000343
- Variant:23
- ClinVarID:127812
- CAID:CA000225
- ClinVarID:142320
- ClinVarID:127816
- CAID:CA10584593
- CAID:CA000123
- Variant:41
- CAID:CA000454
- Variant:36
- ValidationControl:Benign
- CAID:CA397842793
- CAID:CA397832401
- Variant:25
- CAID:CA497717451
- CAID:CA1139768485
- ClinVarID:127808
- Variant:1
- Variant:7
- Variant:26
- ClinVarID:246343
- Variant:46
- CAID:CA000049
- CAID:CA16603061
- CAID:CA1139768486
- CAID:CA000259
- AssayControl:Normal
- ClinVarID:185120
- Variant:35
- Variant:20
- Variant:16
- ClinVarID:12379
- Variant:17
- Variant:12
- Variant:18
- Variant:45
- CAID:CA397832246
- ClinVarID:12374
- ClinVarID:141114
- CAID:CA1139768484
- ValidationControl:WildType
- CAID:CA000102
- CAID:CA000013
- ValidationControl:Pathogenic
- Variant:6
- CAID:CA000071
- ClinVarID:127821
- CAID:CA000144
- CAID:CA000251
- Variant:4
- ClinVarID:127824
- Variant:15
- Variant:5
- FuncAssay:3
- CAID:CA000457
- ClinVarID:12364
- ClinVarID:177825
- CGType:FunctionalAssayResult
- Variant:8
- Variant:48
- CAID:CA645588451
- Variant:42
- CAID:CA000272
- ClinVarID:481148
- ClinVarID:376644
- ClinVarID:35555
- FuncAssay:4
Annotators
URL
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