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Table 3 Analysis of missense variants from BRCA1/2 gene of uncertain significance using mutation function prediction models

From: Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil

Gene Exon HDVS cDNA HGVS protein PolyPhen SIFT Provean Align GVGD Human splice finder ID
BRCA1 22 c.5348 T > C p.Met1783Thr Probably Damaging Damaging Neutral Class C45 - 94
BRCA2 11 c.2350A > G p.Met784Val Benign Tolerated Neutral Class C0 Activation of an exonic cryptic donor site / Creation of an exonic ESS site / Alteration of an exonic ESE site. 35
11 c.3515C > T p.Ser1172Leu Probably Damaging Damaging Deleterious Class C0 Creation of an exonic ESS site/Alteration of an exonic ESE site. 25
15 c.7534C > T p.Leu2512Phe Probably Damaging Damaging Neutral Class C0 Alteration of an intronic ESS site. 47
19 c.8351G > A p.Arg2784Gln Probably Damaging Damaging Neutral Class C35 Activation of an exonic cryptic acceptor site 111
Presence of one or more cryptic branch point.
  1. HGVS Human Genome Variation Society, PolyPhen: Variant Benign, Possibly damaging and Probably damaging; SIFT: Variant Tolerated (benign) or Damaging; Provean: Neutral or Deleterius; Align GVGD: Class C0 (Less likely to interfere in protein function), C15, C25, C35, C45, C55, C65 (More likely to interfere in protein function); ID: patient identification