Table 3.
Conflicting interpretations of pathogenicity.
| BRCA1 | RS_number | (Likely) Pathogenic | Uncertain significance | (Likely) Benign | No. of patients | OR | CI |
|---|---|---|---|---|---|---|---|
|
c.1357G>C, p.Glu453Gln |
rs768054411 | 3 | 1 | 1 | |||
|
c.154C>T p.Leu52Phe |
rs80357084 | 5 | 3 | 15 | 0.4646 | 0.2421–0.8914 | |
|
c.2481A>C p.Glu827Asp |
rs397508970 | 2 | 1 | 1 | 0.7082 | 0.0446–11.2359 | |
|
c.2726A>T p.Asn909Ile |
rs80357127 | 8 | 1 | 2 | |||
|
c.4729T>C p.Ser1577Pro |
rs80356909 | 1 | 7 | 9 | 1.2874 | 0.4314–3.8417 | |
|
c.5014_5016delCAC p.His1673del |
rs80358343 | 3 | 4 | 1 | |||
|
c.5068A>C p.Lys1690Gln |
rs397507239 | 8 | 1 | 1 | 0.2358 | 0.0246–2.2601 | |
|
c.5332G>A p.Asp1778Asn |
rs80357112 | 2 | 3 | 1 | |||
|
c.5339T>C p.Leu1780Pro |
rs80357474 | 4 | 1 | 12 | 8.5181 | 1.1192–64.8277 | |
|
c.547 + 14delG c.547 + 14delG |
rs273902771 | 2 | 4 | 6 | |||
|
c.671-8A>G c.671-8A>G |
rs80358144 | 1 | 4 | 5 | 0.8852 | 0.2385–3.2849 | |
|
c.811G>A p.Val271Met |
rs80357244 | 1 | 11 | 2 | 0.3537 | 0.065–1.9254 |
| BRCA2 | RS_number | (Likely) Pathogenic | Uncertain significance | (Likely) Benign | No. of patients | OR | CI |
|---|---|---|---|---|---|---|---|
|
c.10150C>T p.Arg3384Ter |
rs397507568 | 1 | 5 | 2 | 0.4717 | 0.0791–2.8122 | |
|
c.1568A>G p.His523Arg |
rs80358443 | 2 | 9 | 2 | 0.2855 | 0.0554–1.4714 | |
|
c.1817C>T p.Pro606Leu |
rs80358469 | 5 | 1 | 1 | 0.7145 | 0.0448–11.4046 | |
|
c.182T>C p.Leu61Pro |
rs1555280374 | 2 | 1 | 1 | |||
| c.1909 + 22delT | rs276174816 | 1 | 7 | 1 | |||
| c.317-10A>G | rs81002824 | 1 | 1 | 1 | |||
|
c.3256A>G p.Ile1086Val |
rs80358571 | 5 | 2 | 3 | |||
|
c.4599A>C p.Lys1533Asn |
rs80358694 | 3 | 5 | 1 | |||
|
c.5554G>A p.Val1852Ile |
rs80358777 | 4 | 2 | 1 | 0.7078 | 0.0446–11.225 | |
|
c.5969A>C p.Asp1990Ala |
rs148618542 | 6 | 1 | 7 | 1.2391 | 0.3642–4.216 | |
|
c.6101G>A p.Arg2034His |
rs80358849 | 2 | 1 | 1 | |||
|
c.6131G>T p.Gly2044Val |
rs56191579 | 1 | 8 | 4 | 0.4078 | 0.1194–1.3933 | |
|
c.6325G>A p.Val2109Ile |
rs79456940 | 2 | 10 | 10 | 0.6488 | 0.2754–1.5285 | |
|
c.7522G>A p.Gly2508Ser |
rs80358978 | 7 | 6 | 9 | 0.5353 | 0.2254–1.2713 | |
|
c.8092G>A p.Ala2698Thr |
rs80359052 | 6 | 4 | 1 | |||
|
c.8486A>G p.Gln2829Arg |
rs80359100 | 2 | 1 | 1 | |||
| c.8954-5A>G | rs886040949 | 5 | 1 | 1 | |||
|
c.964A>C p.Lys322Gln |
rs11571640 | 3 | 9 | 4 | 0.2375 | 0.0766–0.7367 |