Table 1 All detected variants in this study
From: Molecular profiling of BRCA1 and BRCA2 genes in Turkish patients with early-onset breast cancer
Gene (Refseq accession number) | cDNA change | Predicted protein product | dbSNP | Number of patient detected | ACMG criteria | Variant Interpretation | Additional Information |
|---|---|---|---|---|---|---|---|
BRCA1 (NM_007300.4) | c.981_982del | p.Cys328Ter | rs80357772 | 1 | PVS1, PP5, PM2 | Pathogenic | |
c.1059G > A | p.Trp353Ter | rs80356935 | 1 | PVS1, PP5, PM2 | Pathogenic | ||
c.3607C > T | p.Arg1203Ter | rs62625308 | 1 | PVS1, PP5, PM2 | Pathogenic | ||
c.3666G > C | p.Glu1222Asp | rs1555587312 | 1 | PM2, BP4 | VUS | ||
c.5159G > A | p.Arg1720Gln | rs41293459 | 1 | PS3, PP3, PP5, PM1, PM2, PM5 | Pathogenic | ||
c.5329dup | p.Gln1777ProfsTer74 | rs80357906 | 1 | PVS1, PP5, PS3, PM2 | Pathogenic | ||
BRCA2 (NM_000059.4) | c.721A > T | p.Lys241Ter | rs876659100 | 1 | PVS1, PP5, PM2 | Pathogenic | |
c.1763_1766del | p.Asn588SerfsTer25 | rs80359303 | 1 | PVS1, PP5, PM2 | Pathogenic | ||
c.2514dup | p.Tyr839IlefsTer42 | rs886040433 | 1 | PVS1, PP5, PM2 | Pathogenic | ||
c.2808_2811del | p.Ala938ProfsTer21 | rs80359351 | 1 | PVS1, PP5, PM2 | Pathogenic | ||
c.2951A > G | p.Glu984Gly | rs767964776 | 1 | PM2, BP4 | VUS | ||
c.3727G > A | p.Asp1243Asn | rs398122771 | 1 | PP3, PM2 | VUS | ||
c.4766C > Aa | p.Pro1589Gln | - | 1 | PM2, BP4 | VUS | ||
c.5901G > Cb | p.Lys1967Asn | rs556893517 | 1 | PM2, BP4 | VUS | ||
c.6664 T > G | p.Tyr2222Asp | - | 1 | PM2, PM5, BP4 | VUS | Novel | |
c.8452G > Aa | p.Val2818Ile | rs80359094 | 1 | PM2, BP4 | VUS | ||
c.9018C > G | p.Tyr3006Ter | rs80359154 | 1 | PVS1, PP5, PM2 | Pathogenic | ||
c.9097dup | p.Thr3033AsnfsTer11 | rs397507419 | 2 | PVS1, PP5, PM2 | Pathogenic | ||
Exon 6 deletion | 1 | Pathogenic | Novel | ||||
Exon 12 deletion | 1 | Pathogenic |