45 Matching Annotations
  1. Mar 2021
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional characterization of 84 PALB2 variants of uncertain significance
    4
    1. shannon_mcnulty 18 Mar 2021
      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

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:22 CAID:CA151230 ClinVarID:126630 ValidationControl:Benign
    2. shannon_mcnulty 18 Mar 2021
      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

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:18 CAID:CA161327 ClinVarID:126613 ValidationControl:Benign
    3. shannon_mcnulty 18 Mar 2021
      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

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:2 CAID:CA151212 ClinVarID:126582 ValidationControl:Benign
    4. shannon_mcnulty 18 Mar 2021
      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

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:47 CAID:CA151242 ClinVarID:126699 ValidationControl:Benign
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    ncbi.nlm.nih.gov/pmc/articles/PMC7056643/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor
    9
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    ncbi.nlm.nih.gov/pmc/articles/PMC6847799/
  4. www.nature.com www.nature.com
    Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
    20
    12. shannon_mcnulty 18 Mar 2021
      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.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:21 CAID:CA494163316 ValidationControl:Benign
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    nature.com/articles/s41467-019-13194-2
  5. www.cell.com www.cell.com
    High-Throughput Reclassification of SCN5A Variants
    10
    1. shannon_mcnulty 18 Mar 2021
      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)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:72 CAID:CA064275 ClinVarID:463345 ValidationControl:Benign
    2. shannon_mcnulty 18 Mar 2021
      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)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:49 CAID:CA017888 ClinVarID:201506 ValidationControl:Benign
    3. shannon_mcnulty 18 Mar 2021
      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)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:42 CAID:CA017547 ClinVarID:67829 ValidationControl:Benign
    4. shannon_mcnulty 18 Mar 2021
      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)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:40 CAID:CA017494 ClinVarID:67824 ValidationControl:Benign
    5. shannon_mcnulty 18 Mar 2021
      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)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:31 CAID:CA016475 ClinVarID:48295 ValidationControl:Benign
    6. shannon_mcnulty 18 Mar 2021
      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)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:23 CAID:CA016206 ClinVarID:67734 ValidationControl:Benign
    7. shannon_mcnulty 18 Mar 2021
      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)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:11 CAID:CA059817 ClinVarID:242192 ValidationControl:Benign
    8. shannon_mcnulty 18 Mar 2021
      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)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:83 CAID:CA019926 ClinVarID:68055 ValidationControl:Benign
    9. shannon_mcnulty 18 Mar 2021
      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)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:82 CAID:CA019856 ClinVarID:68049 ValidationControl:Benign
    10. shannon_mcnulty 18 Mar 2021
      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)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:65 CAID:CA064027 ValidationControl:Benign
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    cell.com/ajhg/fulltext/S0002-9297(20)30162-2
  6. Feb 2021
  7. jmg.bmj.com jmg.bmj.com
    Blood functional assay for rapid clinical interpretation of germline TP53 variants
    2
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    jmg.bmj.com/content/early/2020/10/13/jmedgenet-2020-107059