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rs80358746

From SNPedia

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


Make rs80358746(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339572
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358746
ebirs80358746
HLIrs80358746
Exacrs80358746
Varsomers80358746
Maprs80358746
PheGenIrs80358746
hapmaprs80358746
1000 genomesrs80358746
hgdprs80358746
ensemblrs80358746
gopubmedrs80358746
geneviewrs80358746
scholarrs80358746
googlers80358746
pharmgkbrs80358746
gwascentralrs80358746
openSNPrs80358746
23andMers80358746
23andMe allrs80358746
SNP Nexus

SNPshotrs80358746
SNPdbers80358746
MSV3drs80358746
GWAS Ctlgrs80358746
Max Magnitude6
rs80358746, also known as Y1739X, c.5217T>A and p.Tyr1739Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358746(A,C;A,C)
Alt rs80358746(A,C;A,C)
Reference rs80358746(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32913709T>A; NC_000013.10:g.32913709T>C
CLNSRC ClinVar
CLNACC RCV000044610.2, RCV000113399.1, RCV000163098.1, RCV000204350.1,