| Geno
|
Mag
|
Summary
|
| (-;-)
|
6
|
BRCA2 variant considered pathogenic for breast cancer
|
| (-;T)
|
6
|
BRCA2 variant considered pathogenic for breast cancer
|
| (T;T)
|
0
|
common/normal
|
rs80359550, also known as 6174delT, c.5946_5946delT and p.Ser1982Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
More commonly known as 6174delT, rs80359550 is a mutation in the BRCA2 gene linked to early-onset breast cancer. It is considered a founder mutation in Ashkenazi Jews.
One of the direct-to-consumer genetic testing companies, 23andMe, uses their own name, i4000379, for this SNP.
| ClinVar
|
| Risk
|
Rs80359550(-;-) |
| Alt
|
Rs80359550(-;-) |
| Reference
|
Rs80359550(T;T) |
| Significance |
Other |
| Disease |
Breast-ovarian cancer Pancreatic cancer 2 Fanconi anemia Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided BRCA2-Related Disorders Neoplasm of breast |
| Variation | info |
|---|
| Gene |
BRCA2 |
| CLNDBN |
Breast-ovarian cancer, familial 2 Pancreatic cancer 2 Fanconi anemia, complementation group D1 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided BRCA2-Related Disorders Neoplasm of breast |
| Reversed |
0 |
| HGVS |
NC_000013.10:g.32914438delT |
| CLNSRC |
Breast Cancer Information Core (BRCA2) OMIM Allelic Variant |
| CLNACC |
RCV000009910.15, RCV000009911.4, RCV000009912.4, RCV000034451.8, RCV000044800.9, RCV000129627.4, RCV000212245.3, RCV000367838.1, RCV000414179.1, |
