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rs80359503

From SNPedia

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


Make rs80359503(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339645
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359503
ebirs80359503
HLIrs80359503
Exacrs80359503
Varsomers80359503
Maprs80359503
PheGenIrs80359503
hapmaprs80359503
1000 genomesrs80359503
hgdprs80359503
ensemblrs80359503
gopubmedrs80359503
geneviewrs80359503
scholarrs80359503
googlers80359503
pharmgkbrs80359503
gwascentralrs80359503
openSNPrs80359503
23andMers80359503
23andMe allrs80359503
SNP Nexus

SNPshotrs80359503
SNPdbers80359503
MSV3drs80359503
GWAS Ctlgrs80359503
Max Magnitude6
rs80359503, also known as 5518delTC, c.5290_5291delTC and p.Ser1764Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359503(;)
Alt rs80359503(;)
Reference rs80359503(TC;TC)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32913782_32913783delTC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031537.4, RCV000044629.3, RCV000215243.1,