Rs80359604

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:


 * Breast-ovarian cancer, familial 2
 * Fanconi anemia, complementation group D1
 * Medulloblastoma
 * Wilms tumor 1
 * Glioma susceptibility 3
 * Pre-B-cell acute lymphoblastic leukemia
 * BRCA1 and BRCA2 Hereditary Breast cancer and Ovarian cancer