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rs80359688

From SNPedia

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


Make rs80359688(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32362651
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359688
dbSNP (classic)rs80359688
ClinGenrs80359688
ebirs80359688
HLIrs80359688
Exacrs80359688
Gnomadrs80359688
Varsomers80359688
LitVarrs80359688
Maprs80359688
PheGenIrs80359688
Biobankrs80359688
1000 genomesrs80359688
hgdprs80359688
ensemblrs80359688
geneviewrs80359688
scholarrs80359688
googlers80359688
pharmgkbrs80359688
gwascentralrs80359688
openSNPrs80359688
23andMers80359688
SNPshotrs80359688
SNPdbers80359688
MSV3drs80359688
GWAS Ctlgrs80359688
Max Magnitude6

rs80359688, also known as 8162delG, c.7934_7934delG and p.Arg2645Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359688(-;-)
Alt rs80359688(-;-)
Reference Rs80359688(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32936788delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000077418.7, RCV000132051.3, RCV000257923.3,