Geno
|
Mag
|
Summary
|
(-;GT)
|
6
|
BRCA2 variant considered pathogenic for breast cancer
|
(GT;GT)
|
0
|
common/normal
|
rs80359604, also known as 886delGT, c.658_659delGT and p.Val220Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.rs80359604, also known as 886delGT and Val220Ilefs, is a mutation in the BRCA2 gene on chromosome 13.
A good starting place for information about this SNP is OMIM.
Although there is some conflicting evidence, the deletion form of this SNP has been reported to be associated with several different (generally recessively inherited) conditions, including:
23andMe name: i5009241
ClinVar
|
Risk
|
rs80359604(-;-) rs80359604(TG;TG) |
Alt
|
rs80359604(-;-) rs80359604(TG;TG) |
Reference
|
Rs80359604(GT;GT) |
Significance |
Other |
Disease |
Fanconi anemia Wilms tumor 1 Glioma susceptibility 3 Medulloblastoma Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer Familial cancer of breast |
Variation | info |
---|
Gene |
BRCA2 |
CLNDBN |
Fanconi anemia, complementation group D1 Wilms tumor 1 Glioma susceptibility 3 Medulloblastoma Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 Familial cancer of breast |
Reversed |
0 |
HGVS |
NC_000013.10:g.32903606_32903607delGT |
CLNSRC |
Breast Cancer Information Core (BRCA2) OMIM Allelic Variant |
CLNACC |
RCV000009929.4, RCV000009930.4, RCV000009931.4, RCV000009932.6, RCV000031637.8, RCV000044988.5, RCV000074548.8, RCV000131858.4, RCV000210073.1, RCV000466729.1, |