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rs80359760

From SNPedia

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


Make rs80359760(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394835
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359760
ebirs80359760
HLIrs80359760
Exacrs80359760
Varsomers80359760
Maprs80359760
PheGenIrs80359760
hapmaprs80359760
1000 genomesrs80359760
hgdprs80359760
ensemblrs80359760
gopubmedrs80359760
geneviewrs80359760
scholarrs80359760
googlers80359760
pharmgkbrs80359760
gwascentralrs80359760
openSNPrs80359760
23andMers80359760
23andMe allrs80359760
SNP Nexus

SNPshotrs80359760
SNPdbers80359760
MSV3drs80359760
GWAS Ctlgrs80359760
Max Magnitude6
rs80359760, also known as 9631delC, c.9403_9403delC and p.Leu3135Phefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359760(;)
Alt rs80359760(;)
Reference rs80359760(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32968972delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045813.3, RCV000077470.4, RCV000164828.1,