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rs80359541

From SNPedia

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


Make rs80359541(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340183
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359541
ebirs80359541
HLIrs80359541
Exacrs80359541
Varsomers80359541
Maprs80359541
PheGenIrs80359541
hapmaprs80359541
1000 genomesrs80359541
hgdprs80359541
ensemblrs80359541
gopubmedrs80359541
geneviewrs80359541
scholarrs80359541
googlers80359541
pharmgkbrs80359541
gwascentralrs80359541
openSNPrs80359541
23andMers80359541
23andMe allrs80359541
SNP Nexus

SNPshotrs80359541
SNPdbers80359541
MSV3drs80359541
GWAS Ctlgrs80359541
Max Magnitude6
rs80359541, also known as 6056delC, c.5828_5828delC and p.Ser1943Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359541(;)
Alt rs80359541(;)
Reference rs80359541(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32914320delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031580.5, RCV000044766.5, RCV000131318.2, RCV000195355.1,