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rs80359685

From SNPedia

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


Make rs80359685(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32362564
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359685
ebirs80359685
HLIrs80359685
Exacrs80359685
Varsomers80359685
Maprs80359685
PheGenIrs80359685
hapmaprs80359685
1000 genomesrs80359685
hgdprs80359685
ensemblrs80359685
gopubmedrs80359685
geneviewrs80359685
scholarrs80359685
googlers80359685
pharmgkbrs80359685
gwascentralrs80359685
openSNPrs80359685
23andMers80359685
23andMe allrs80359685
SNP Nexus

SNPshotrs80359685
SNPdbers80359685
MSV3drs80359685
GWAS Ctlgrs80359685
Max Magnitude6
rs80359685, also known as 8075delC, c.7847_7847delC and p.Ser2616Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359685(;)
Alt rs80359685(;)
Reference rs80359685(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32936701delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045329.2, RCV000113833.1, RCV000213408.1,