Geno
|
Mag
|
Summary
|
(A;C)
|
6
|
BRCA2 variant considered pathogenic for breast cancer
|
(C;C)
|
0
|
common in clinvar
|
(C;G)
|
6
|
BRCA2 variant considered pathogenic for breast cancer
|
rs80359200, also known as Y3098X, c.9294C>G and p.Tyr3098Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
|
Risk
|
rs80359200(A;A) rs80359200(G;G) |
Alt
|
rs80359200(A;A) rs80359200(G;G) |
Reference
|
Rs80359200(C;C) |
Significance |
Pathogenic |
Disease |
Breast-ovarian cancer Familial cancer of breast Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
---|
Gene |
BRCA2 |
CLNDBN |
Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 |
Reversed |
0 |
HGVS |
NC_000013.10:g.32968863C>A; NC_000013.10:g.32968863C>G |
CLNSRC |
ClinVar Ambry Genetics |
CLNACC |
RCV000031811.6, RCV000045783.2, RCV000031812.6, RCV000045784.5, RCV000074562.7, RCV000131041.3, RCV000210096.1, RCV000465472.1, |