4 Matching Annotations
  1. Mar 2021
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
    4
    1. shannon_mcnulty 18 Mar 2021
      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

      CGType:FunctionalAssayResult FuncAssay:4 Variant:37 CAID:CA395144928
    2. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 26.39

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.11

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:29 CAID:CA395144928 ClinVarID:484164
    3. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 17.35

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 6.21

      StandardErrorMean: 4.39

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:29 CAID:CA395144928 ClinVarID:484164
    4. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2809G>A p.(G937R)

      CGType:Variant CG:BulkAnnotation Variant:29 ClinVarID:484164 CAID:CA395144928
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    ncbi.nlm.nih.gov/pmc/articles/PMC6876638/