8 Matching Annotations
  1. Mar 2021
  2. 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
    4
    1. shannon_mcnulty 18 Mar 2021
      SUPPLEMENTARY DATA

      AssayResult: 85

      AssayResultAssertion: Not reported

      PValue: Not reported

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:38 CAID:CA161315 ClinVarID:126758
    2. shannon_mcnulty 18 Mar 2021
      SUPPLEMENTARY DATA

      AssayResult: 3

      AssayResultAssertion: Indeterminate

      PValue: Not reported

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:38 CAID:CA161315 ClinVarID:126758
    3. shannon_mcnulty 18 Mar 2021
      SUPPLEMENTARY DATA

      AssayResult: 82.06

      AssayResultAssertion: Indeterminate

      PValue: 0.0058

      Comment: Exact values reported in Table S3.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:38 CAID:CA161315 ClinVarID:126758
    4. shannon_mcnulty 18 Mar 2021
      To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.53A>G p.(Lys18Arg)

      CGType:Variant CG:BulkAnnotation Variant:38 ClinVarID:126758 CAID:CA161315
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    ncbi.nlm.nih.gov/pmc/articles/PMC6847799/
  3. 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
      Source Data

      AssayResult: 84.05

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 16.48

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

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:65 CAID:CA161315 ClinVarID:126758
    2. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 94.47

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 0.99

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

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:65 CAID:CA161315 ClinVarID:126758
    3. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 100.19

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 5.64

      StandardErrorMean: 3.99

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

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:65 CAID:CA161315 ClinVarID:126758
    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.53A>G p.(K18R)

      CGType:Variant CG:BulkAnnotation Variant:65 ClinVarID:126758 CAID:CA161315
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6876638/