HGVS : Protein: DNA | BIC: Status | N° Carrier (%) | Co-occurrence with deleterious | Prediction SIFT GVGD grade | refSNP | ||
---|---|---|---|---|---|---|---|
BRCA1 | |||||||
p. Arg7Cys | c.19C > T | CU | 2(1.1) | - | NT | C15 | rs144792613 |
p. Cys61Gly | c.181 T > G | D | 1 (1.1) | - | NT | C65 | - |
p. Arg71Gly | c.211A > G | D | 1 (1.1) | - | NT | C65 | - |
p. Val122Asp | c.365 T > A | NR | 5 (5.3) | BRCA2 | T | C0 | - |
p. Gln139Lys | c.415C > A | NR | 6 (6.3) | - | T | C0 | - |
p. Tyr179Cys | c.536A > G | CU | 1 (1.1) | BRCA1[30] (AB80) | NT | C35 | rs56187033 |
p. Gln356Arg | c.1067A > G | CU | 10 (10.6) | BRCA1/BRCA2# | T | C0 | rs1799950 |
p. Phe486Leu | c.1456 T > C | CU | 1 (1.1) | BRCA1[30] (AB80) | T | C0 | rs55906931 |
p. Val525Ile | c.1573 G > A | CU | 1 (1.1) | - | T | C0 | rs80357273 |
p. Asn550His | c.1648A > C | CU | 1 (1.1) | BRCA1[30] (AB80) | NT | C0 | rs56012641 |
p. Asp693Asn | c.2077 G > A | CN | 8 (8.5) | BRCA1 | T | C0 | rs4986850 |
p. Pro871Leu | c.2612C > T | CN | 29 (30.9) | BRCA1/BRCA2# | T | C0 | rs799917 |
p. Lys898Glu | c.2692A > G | CU | 1 (1.1) | BRCA2 | T | C0 | rs80357420 |
p. Met1008Ile | c.3024 G > A | CU | 1 (1.1) | BRCA1[30] | T | C0 | rs1800704 |
p. Glu1038Gly | c.3113 G > A | CN | 33 (35.1) | BRCA1/BRCA2# | T | C0 | rs16941 |
p. Ser1040Asn | c.3119 G > A | CU | 1 (1.1) | BRCA1[31] | T | C0 | rs4986852 |
p. Asp1131Glu | c.3393C > G | NR | 1 (1.1) | BRCA2 | T | C0 | - |
p. Lys1183Arg | c.3548A > G | CN | 34 (36.2) | BRCA1/BRCA2# | T | C0 | rs16942 |
p. Ile1275Val | c.3823A > G | CU | 8 (8.5) | - | T | C0 | rs80357280 |
p. Glu1586Gly | c.4757A > G | NR | 1 (1.1) | - | NT | C0 | - |
p. Ser1613Gly | c.4837A > G | CN | 33 (35.1) | BRCA1/BRCA# | T | C0 | rs1799966 |
p. Met1652Thr | c.4955 T > C | CU | 1 (1.1) | - | NT | C25 | rs80356968 |
BRCA2 | |||||||
p. Tyr42Cys | c.125A > G | CU(BIC) | 1 (1.1) | - | T | C0 | rs4987046 |
p. Asn289His | c.865A > C | CN | 5 (5.3) | BRCA2 | NT | C0 | rs766173 |
p. His372Asn | c.1114C > A | CN | 24 (4.2) | BRCA1/BRCA2# | T | C0 | rs144848 |
p. Arg858Ile | c.2578 G > T | NR | 1 (1.1) | BRCA2 | T | C0 | - |
p. Asn991Asp | c.2971A > G | CN | 4 (4.2) | BRCA2 | T | C0 | rs1799944 |
p.Q1063K | c.3187C > A | NR | 1 (1.1) | - | T | C0 | - |
p. Asp1420Tyr | c.4258 G > A | CN | 1 (1.1) | BRCA2[32] | T | C0 | rs28897727 |
p. Met1915Thr | c.5744 T > C | CU | 1 (1.1) | - | T | C0 | rs4987117 |
p. Ser2098Phe | c.6749C > T | CU | 1 (1.1) | - | T | C0 | rs80358867 |
p. Arg2108His | c.6323 G > A | CU | 1.(1.1) | - | T | C0 | rs35029074 |
p. Ala2466Val | c.7397C > T | CU | 37 (39.4) | BRCA1/BRCA2# | NT | C0 | rs169547 |
p. Asn2486Lys | c.7919 T > G | NR | 1(1.1) | - | T | C0 | - |
p. Ile2490Thr | c.7469 T > C | CU | 6 (6.3) | - | NT | C0 | rs11571707 |
p. Asp2723His | c.8167 G > C | CU | 1 (1.1) | - | NT | C65 | rs41293511 |
p. Ile3412Val | c.10690A > G | CU | 3 (3.2) | - | T | C0 | rs1801426 |