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rs80359691

From SNPedia

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


Make rs80359691(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363231
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359691
ebirs80359691
HLIrs80359691
Exacrs80359691
Varsomers80359691
Maprs80359691
PheGenIrs80359691
hapmaprs80359691
1000 genomesrs80359691
hgdprs80359691
ensemblrs80359691
gopubmedrs80359691
geneviewrs80359691
scholarrs80359691
googlers80359691
pharmgkbrs80359691
gwascentralrs80359691
openSNPrs80359691
23andMers80359691
23andMe allrs80359691
SNP Nexus

SNPshotrs80359691
SNPdbers80359691
MSV3drs80359691
GWAS Ctlgrs80359691
Max Magnitude6
rs80359691, also known as 8257delG, c.8029_8029delG and p.Glu2677Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359691(;)
Alt rs80359691(;)
Reference rs80359691(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32937368delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045393.2, RCV000113857.1, RCV000166854.1,