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.215A > G | p.Asn72Ser | 1 | C0 | Benign | Tolerated | 0.07 | 0.21 | 1/1215 | 3/1454 | 0.41 | 0.04–3.98 | 0.441 |
c.440A > G | p.Gln147Arg | 16 | C0 | Benign | Tolerated | 0.39 | 0.62 | 12/1218 | 9/1463 | 1.38 | 0.58–3.33 | 0.469 |
c.943 T > A | p.Cys315Ser | 15 | C0 | Benign | Tolerated | 0.50 | 1.20 | 18/2055 | 17/1420 | 0.79 | 0.41–1.55 | 0.496 |
c.1825C > G | p.Gln609Glu | 1 | C0 | Benign | Damaging | 0.06 | 0.07 | 2/1218 | 1/1464 | 1.65 | 0.15–18.37 | 0.683 |
c.2186 T > C | p.Ile729Thr | 0 | C0 | Benign | Tolerated | 0.09 | 0.28 | 1/1213 | 4/1423 | 0.31 | 0.04–2.80 | 0.298 |
c.3445A > G | p.Met1149Val | 8 | C0 | Benign | Tolerated | 0.26 | 0.48 | 7/1215 | 7/1454 | 0.83 | 0.29–2.43 | 0.740 |
c.4376A > G | p.Asn1459Ser | 1 | C0 | Benign | Tolerated | 0.10 | 0.14 | 5/2087 | 2/1462 | 1.89 | 0.37–9.80 | 0.448 |
c.4779A > C | p.Glu1593Asp | 3 | C0 | Benign | Tolerated | 0.14 | 0.27 | 6/2088 | 4/1464 | 1.15 | 0.32–4.13 | 0.834 |
c.5167A > C | p.Thr1723Pro | 1 | C0 | Possibly damaging | Tolerated | 0.04 | 0.07 | 1/1214 | 1/1454 | 1.05 | 0.06–16.99 | 0.976 |
c.5312G > A | p.Gly1771Asp | 44 | C0 | Benign | Tolerated | 0.03 | 0.07 | 1/2054 | 1/1459 | 0.58 | 0.04–9.74 | 0.706 |
c.5785A > G | p.Ile1929Val | 32 | C0 | Benign | Tolerated | 0.82 | 1.62 | 20/1213 | 23/1421 | 1.03 | 0.56–1.90 | 0.916 |
c.5986G > A | p.Ala1996Thr | 4 | C55 | Probably damaging | Tolerated | 0.16 | 0.34 | 6/2060 | 5/1462 | 0.95 | 0.29–3.16 | 0.932 |
c.6322C > T | p.Arg2108Cys | 22 | C0 | Benign | Tolerated | 0.55 | 1.12 | 13/1207 | 16/1431 | 0.94 | 0.45–1.98 | 0.871 |
c.6325G > A | p.Val2109Ile | 8 | C0 | Benign | Tolerated | 0.25 | 0.49 | 6/1213 | 7/1422 | 0.89 | 0.30–2.69 | 0.837 |
c.7052C > G | p.Ala2351Gly | 6 | C0 | Possibly damaging | Damaging | 0.21 | 0.49 | 8/2077 | 7/1422 | 0.78 | 0.28–2.17 | 0.627 |
c.7469 T > C | p.Ile2490Thr | 240 | C0 | Benign | Tolerated | 0.06 | 0.07 | 3/2060 | 1/1462 | 2.27 | 0.24–21.90 | 0.480 |
c.8187G > T | p.Lys2729Asn | 24 | C0 | Probably damaging | Damaging | 0.63 | 1.30 | 15/1218 | 19/1463 | 0.98 | 0.50–1.95 | 0.964 |
c.8356G > A | p.Ala2786Thr | 2 | C0 | Probably damaging | Damaging | 0.17 | 0.28 | 8/2088 | 4/1448 | 1.52 | 0.45–5.07 | 0.498 |
c.8702G > A | p.Gly2901Asp | 3 | C65 | Probably damaging | Damaging | 0.11 | 0.34 | 1/1217 | 5/1464 | 0.25 | 0.03–2.16 | 0.208 |
c.9104A > G | p.Tyr3035Cys | 3 | C55 | Probably damaging | Damaging | 0.06 | 0.07 | 2/1213 | 1/1454 | 2.34 | 0.21–26.02 | 0.489 |
c.9538C > T | p.Leu3180Phe | 1 | C0 | Probably damaging | Damaging | 0.04 | 0.14 | 1/2089 | 2/1448 | 0.34 | 0.03–3.81 | 0.382 |
c.10234A > G | p.Ile3412Val | 114 | C0 | Benign | Tolerated | 1.42 | 2.53 | 40/1217 | 37/1464 | 1.29 | 0.81–2.04 | 0.280 |
c.68-7 T > A | - | 3 | Not applicableh | 0.07 | 0.07 | 4/2076 | 1/1458 | 3.10 | 0.34–28.31 | 0.316 | ||
c.516 + 18 T > C | - | 1 | Not applicableh | 0.29 | 0.49 | 8/1207 | 7/1417 | 1.41 | 0.51–3.91 | 0.511 | ||
c.8954-5_8954-2delAACA | - | 0 | Not applicableh | 0.06 | 0.14 | 2/2088 | 2/1463 | 0.83 | 0.12–5.93 | 0.855 |