Gene | No. of patient | Exon | Systematic nomenclature | BIC nomenclature | Amino acid change | References | Align-GVGD | SIFT | PROVEAN | PolyPhen-2 | PMUT | PANTHER |
---|---|---|---|---|---|---|---|---|---|---|---|---|
BRCA1 | 1 | 11 | c.1679A > T | 1798A > T | D560V | Novel | C0 | Damaging | Deleterious | Possibly damaging | Neutral | Deleterious |
1 | 11 | c.1537C > G | 1656C > G | H513D | novel | C0 | Tolerated | Deleterious | Benign | Pathological | Neutral | |
1 | 11 | c.2286A > T | 2405A > T | R762S | BIC | C0 | Damaging | Deleterious | Benign | Pathological | Neutral | |
1 | 14 | c.4445A > C | 4564A > C | D1482A | novel | C0 | Damaging | Neutral | Benign | Pathological | Neutral | |
1 | 11 | c.1966A > T | 2085A > T | N656Y | novel | C0 | Damaging | Deleterious | Possibly damaging | Neutral | Deleterious | |
1 | 11 | c.2340G > T | 2459G > T | Q780H | novel | C0 | Damaging | Deleterious | Probably damaging | Neutral | Deleterious | |
1 | 11 | c.2726A > T | 2845A > T | N909I | BIC, Thirthagiri et al. [8] | C0 | Damaging | Deleterious | Possibly damaging | Neutral | Neutral | |
BRCA2 | 1 | 10 | c.1568A > G | 1796A > G | H523R | novel | C0 | Damaging | Neutral | Benign | Pathological | Neutral |
1 | 11 | c.3904A > G | 4132A > G | T1302A | novel | C0 | Tolerated | Deleterious | Benign | Neutral | Neutral | |
1 | 11 | c.5590G > A | 5818G > A | D1864N | novel | C0 | Damaging | Neutral | Benign | Neutral | Neutral | |
1 | 11 | c.6763A > T | 6991A > T | T2255S | novel | C0 | Damaging | Neutral | Possibly damaging | Neutral | Deleterious |