| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
6
|
BRCA2 variant considered pathogenic for breast cancer
|
rs80359180, also known as Q3066X, c.9196C>T and p.Gln3066Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar
|
| Risk
|
rs80359180(A;A) rs80359180(G;G) rs80359180(T;T) |
| Alt
|
rs80359180(A;A) rs80359180(G;G) rs80359180(T;T) |
| Reference
|
Rs80359180(C;C) |
| Significance |
Pathogenic |
| Disease |
Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer Fanconi anemia Hereditary cancer-predisposing syndrome Breast-ovarian cancer not provided |
| Variation | info |
|---|
| Gene |
BRCA2 |
| CLNDBN |
Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial 2 Fanconi anemia, complementation group D1 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 not provided |
| Reversed |
0 |
| HGVS |
NC_000013.10:g.32954222C>A; NC_000013.10:g.32954222C>G; NC_000013.10:g.32954222C>T |
| CLNSRC |
OMIM Allelic Variant |
| CLNACC |
RCV000233608.1, RCV000045744.2, RCV000114064.1, RCV000009941.5, RCV000077463.8, RCV000131052.3, RCV000210196.1, RCV000235644.2, RCV000257912.3, |
