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rs80358814

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358814(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340212
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358814
ebirs80358814
HLIrs80358814
Exacrs80358814
Varsomers80358814
Maprs80358814
PheGenIrs80358814
hapmaprs80358814
1000 genomesrs80358814
hgdprs80358814
ensemblrs80358814
gopubmedrs80358814
geneviewrs80358814
scholarrs80358814
googlers80358814
pharmgkbrs80358814
gwascentralrs80358814
openSNPrs80358814
23andMers80358814
23andMe allrs80358814
SNP Nexus

SNPshotrs80358814
SNPdbers80358814
MSV3drs80358814
GWAS Ctlgrs80358814
Max Magnitude6
rs80358814, also known as E1953X, c.5857G>T and p.Glu1953Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358814(T;T)
Alt rs80358814(T;T)
Reference rs80358814(G;G)
Significance Pathogenic
Disease not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN not provided Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32914349G>T
CLNSRC Inc.
CLNACC RCV000044775.5, RCV000077363.4, RCV000131117.3, RCV000195356.4,