HGVS cDNA | HGVS protein | Reported in BICa | AGVGDb | PolyPhen-2c | SIFTd | MAFe (%) | VFf in controls (%) | Breast cancer cases | Healthy controls | ORg | 95% CI | p-value |
---|---|---|---|---|---|---|---|---|---|---|---|---|
c.571G > A | p.Val191Ile | 10 | C0 | Benign | Damaging | 0.30 | 0.75 | 5/1218 | 11/1464 | 0.53 | 0.18–1.54 | 0.242 |
c.823G > A | p.Gly275Ser | 4 | C0 | Probably damaging | Damaging | 0.08 | 0.14 | 4/2089 | 2/1464 | 1.49 | 0.27–8.25 | 0.650 |
c.1036C > T | p.Pro346Ser | 4 | C0 | Benign | Tolerated | 0.13 | 0.14 | 5/1219 | 2/1464 | 3.30 | 0.64–17.09 | 0.155 |
c.2286A > T | p.Arg762Ser | 3 | C0 | Benign | Damaging | 0.13 | 0.07 | 6/1218 | 1/1463 | 7.44 | 0.89–62.32 | 0.064 |
c.2726A > T | p.Asn909Ile | 2 | C0 | Possibly damaging | Damaging | 0.13 | 0.27 | 5/2091 | 4/1462 | 0.90 | 0.24–3.37 | 0.874 |
c.3625 T > G | p.Leu1209Val | 1 | C0 | Possibly damaging | Damaging | 0.04 | 0.14 | 1/2058 | 2/1461 | 0.18 | 0.02–2.05 | 0.168 |
c.3662A > C | p.Glu1221Ala | 3 | C0 | Probably damaging | Damaging | 0.07 | 0.21 | 1/1215 | 3/1454 | 0.44 | 0.05–4.19 | 0.471 |