- Mar 2021
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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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: 4.4
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: 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: 5.3
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: 6
AssayResultAssertion: Normal
StandardErrorMean: 0.13
-
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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SUPPLEMENTARY DATA
AssayResult: 82
AssayResultAssertion: Normal
PValue: Not reported
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: -6
AssayResultAssertion: Normal
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -16
AssayResultAssertion: Normal
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: -10
AssayResultAssertion: Normal
PValue: Not reported
-
SUPPLEMENTARY DATA
AssayResult: 103.5
AssayResultAssertion: Normal
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Source Data
AssayResult: 97.73
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 5.41
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 80.44
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 9.06
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 74.36
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 1.89
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 102.7
AssayResultAssertion: Not reported
ReplicateCount: 3
StandardErrorMean: 12.82
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 93.44
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 2.24
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 97.37
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 5.14
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 86.54
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 11.96
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 103.53
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 7.06
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 117.58
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 0.81
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 74.18
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 6.49
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 115.71
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 3.09
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 84.43
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 2.77
StandardErrorMean: 1.96
Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as L855P (based on matching values reported in the “Supplementary Data 1” file to values reported in the “Source Data” file.
-
Source Data
AssayResult: 91.47
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 8.63
StandardErrorMean: 6.1
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 90.64
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 1.82
StandardErrorMean: 1.29
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 95.16
AssayResultAssertion: Not reported
ReplicateCount: 3
StandardDeviation: 16.94
StandardErrorMean: 9.78
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 91.6
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 8.2
StandardErrorMean: 5.8
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 83.25
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 5.27
StandardErrorMean: 3.73
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 95.02
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 0.08
StandardErrorMean: 0.06
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 98.55
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 5.74
StandardErrorMean: 4.06
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 86.67
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 2.24
StandardErrorMean: 1.58
Comment: Exact values reported in “Source Data” file.
Tags
- CAID:CA151242
- CAID:CA163622
- CAID:CA494163316
- CGType:FunctionalAssayResult
- CAID:CA161327
- ClinVarID:126749
- Variant:66
- Variant:21
- CAID:CA151212
- ClinVarID:126582
- ValidationControl:Benign
- FuncAssay:1
- ClinVarID:126699
- CG:BulkAnnotation
- CAID:CA185966
- Variant:10
- FuncAssay:3
- Variant:14
- Variant:1
- Variant:22
- ClinVarID:126613
- Variant:38
- CAID:CA161333
- ClinVarID:126630
- Variant:18
- CAID:CA151233
- FuncAssay:2
- ClinVarID:126761
- Variant:63
- ClinVarID:126669
- ClinVarID:182790
- CAID:CA151230
Annotators
URL
-
-
www.cell.com www.cell.com
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 89.4
AssayResultAssertion: Normal
ReplicateCount: 26
StandardErrorMean: 12.7
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 85.1
AssayResultAssertion: Normal
ReplicateCount: 35
StandardErrorMean: 10.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 103.2
AssayResultAssertion: Normal
ReplicateCount: 33
StandardErrorMean: 12.7
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 120.5
AssayResultAssertion: Normal
ReplicateCount: 33
StandardErrorMean: 13.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 94.8
AssayResultAssertion: Normal
ReplicateCount: 33
StandardErrorMean: 12.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 109.1
AssayResultAssertion: Normal
ReplicateCount: 26
StandardErrorMean: 14.8
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 101
AssayResultAssertion: Normal
ReplicateCount: 41
StandardErrorMean: 8.9
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 104.3
AssayResultAssertion: Normal
ReplicateCount: 30
StandardErrorMean: 16.3
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 105.8
AssayResultAssertion: Normal
ReplicateCount: 36
StandardErrorMean: 12.7
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 103.2
AssayResultAssertion: Normal
ReplicateCount: 37
StandardErrorMean: 21.8
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
Tags
- ClinVarID:67829
- CAID:CA019926
- Variant:42
- Variant:23
- CAID:CA016475
- ClinVarID:68055
- CAID:CA064027
- ClinVarID:68049
- CGType:FunctionalAssayResult
- Variant:31
- Variant:72
- ClinVarID:242192
- ClinVarID:67824
- Variant:65
- Variant:82
- Variant:40
- ClinVarID:48295
- CAID:CA017494
- CAID:CA017547
- Variant:49
- ClinVarID:463345
- CAID:CA017888
- ClinVarID:201506
- ClinVarID:67734
- CAID:CA059817
- CAID:CA064275
- FuncAssay:1
- ValidationControl:Benign
- Variant:11
- CG:BulkAnnotation
- Variant:83
- CAID:CA019856
- CAID:CA016206
Annotators
URL
-
- Feb 2021
-
jmg.bmj.com jmg.bmj.com
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Supplemental material
AssayResult: 118
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 12.9
AssayResultAssertion: Normal
Comment: See Table S3 for details
-