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rs80359604

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GT) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359604(-;-)
Make rs80359604(GT;GT)
ReferenceGRCh38 38.1/142
Chromosome13
Position32329469
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359604
ebirs80359604
HLIrs80359604
Exacrs80359604
Varsomers80359604
Maprs80359604
PheGenIrs80359604
hapmaprs80359604
1000 genomesrs80359604
hgdprs80359604
ensemblrs80359604
gopubmedrs80359604
geneviewrs80359604
scholarrs80359604
googlers80359604
pharmgkbrs80359604
gwascentralrs80359604
openSNPrs80359604
23andMers80359604
23andMe allrs80359604
SNP Nexus

SNPshotrs80359604
SNPdbers80359604
MSV3drs80359604
GWAS Ctlgrs80359604
Max Magnitude6
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:

ClinVar
Risk rs80359604(;)
Alt rs80359604(;)
Reference rs80359604(TG;TG)
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
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
Reversed 0
HGVS NC_000013.10:g.32903606_32903607delGT
CLNSRC Breast Cancer Information Core (BRCA2) Inc. OMIM Allelic Variant
CLNACC RCV000009929.3, RCV000009930.3, RCV000009931.3, RCV000009932.5, RCV000031637.7, RCV000044988.3, RCV000074548.6, RCV000131858.3, RCV000210073.1,