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rs80359589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CT) 6 BRCA2 variant considered pathogenic for breast cancer
(CT;CT) 0 common in clinvar


Make rs80359589(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340798
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359589
ebirs80359589
HLIrs80359589
Exacrs80359589
Varsomers80359589
Maprs80359589
PheGenIrs80359589
hapmaprs80359589
1000 genomesrs80359589
hgdprs80359589
ensemblrs80359589
gopubmedrs80359589
geneviewrs80359589
scholarrs80359589
googlers80359589
pharmgkbrs80359589
gwascentralrs80359589
openSNPrs80359589
23andMers80359589
23andMe allrs80359589
SNP Nexus

SNPshotrs80359589
SNPdbers80359589
MSV3drs80359589
GWAS Ctlgrs80359589
Max Magnitude6
rs80359589, also known as 6671delCT, c.6443_6444delCT and p.Ser2148Tyrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359589(;)
Alt rs80359589(;)
Reference rs80359589(CT;CT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914935_32914936delCT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044950.2, RCV000113588.1,