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rs80359003

From SNPedia

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


Make rs80359003(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32357881
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359003
ebirs80359003
HLIrs80359003
Exacrs80359003
Varsomers80359003
Maprs80359003
PheGenIrs80359003
hapmaprs80359003
1000 genomesrs80359003
hgdprs80359003
ensemblrs80359003
gopubmedrs80359003
geneviewrs80359003
scholarrs80359003
googlers80359003
pharmgkbrs80359003
gwascentralrs80359003
openSNPrs80359003
23andMers80359003
23andMe allrs80359003
SNP Nexus

SNPshotrs80359003
SNPdbers80359003
MSV3drs80359003
GWAS Ctlgrs80359003
Max Magnitude6
rs80359003, also known as W2586X, c.7757G>A and p.Trp2586Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359003(A;A)
Alt rs80359003(A;A)
Reference rs80359003(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32932018G>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000045302.4, RCV000077410.4, RCV000131087.2, RCV000215688.1,