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rs80358981

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358981(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32356550
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358981
ebirs80358981
HLIrs80358981
Exacrs80358981
Varsomers80358981
Maprs80358981
PheGenIrs80358981
hapmaprs80358981
1000 genomesrs80358981
hgdprs80358981
ensemblrs80358981
gopubmedrs80358981
geneviewrs80358981
scholarrs80358981
googlers80358981
pharmgkbrs80358981
gwascentralrs80358981
openSNPrs80358981
23andMers80358981
23andMe allrs80358981
SNP Nexus

SNPshotrs80358981
SNPdbers80358981
MSV3drs80358981
GWAS Ctlgrs80358981
Max Magnitude6
rs80358981, also known as R2520X, c.7558C>T and p.Arg2520Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358981(T;T)
Alt rs80358981(T;T)
Reference rs80358981(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Breast cancer Hereditary cancer-predisposing syndrome Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Breast cancer Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 not provided
Reversed 0
HGVS NC_000013.10:g.32930687C>T
CLNSRC Inc.
CLNACC RCV000045244.5, RCV000077405.5, RCV000148425.1, RCV000162645.2, RCV000210182.1, RCV000217859.1,