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rs80358824

From SNPedia

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


Make rs80358824(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340264
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358824
ebirs80358824
HLIrs80358824
Exacrs80358824
Varsomers80358824
Maprs80358824
PheGenIrs80358824
hapmaprs80358824
1000 genomesrs80358824
hgdprs80358824
ensemblrs80358824
gopubmedrs80358824
geneviewrs80358824
scholarrs80358824
googlers80358824
pharmgkbrs80358824
gwascentralrs80358824
openSNPrs80358824
23andMers80358824
23andMe allrs80358824
SNP Nexus

SNPshotrs80358824
SNPdbers80358824
MSV3drs80358824
GWAS Ctlgrs80358824
Max Magnitude6
rs80358824, also known as S1970X, c.5909C>A and p.Ser1970Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358824(A,T;A,T)
Alt rs80358824(A,T;A,T)
Reference rs80358824(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32914401C>A; NC_000013.10:g.32914401C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031588.7, RCV000044791.2, RCV000131108.2, RCV000031589.3, RCV000228606.1,