2 Matching Annotations
  1. Mar 2021
    1. 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: Indeterminate

      StandardErrorMean: 0.21

      Comment: This variant was reported as c.398C>G p.(Ser133Thr), however the given allele from reference sequence is incorrect and does not match the actual sequence at the given position. The opposite nucleotide change, c.398G>C, gives the reported protein change (p.(Ser133Thr)), and was assumed to be the intended variant. Use this evidence with caution.

    2. A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected

      HGVS: NM_024675.3:c.398G>C p.(Ser133Thr)