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rs80358751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358751(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339634
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358751
ebirs80358751
HLIrs80358751
Exacrs80358751
Varsomers80358751
Maprs80358751
PheGenIrs80358751
hapmaprs80358751
1000 genomesrs80358751
hgdprs80358751
ensemblrs80358751
gopubmedrs80358751
geneviewrs80358751
scholarrs80358751
googlers80358751
pharmgkbrs80358751
gwascentralrs80358751
openSNPrs80358751
23andMers80358751
23andMe allrs80358751
SNP Nexus

SNPshotrs80358751
SNPdbers80358751
MSV3drs80358751
GWAS Ctlgrs80358751
Max Magnitude6
rs80358751, also known as S1760X, c.5279C>G and p.Ser1760Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358751(G;G)
Alt rs80358751(G;G)
Reference rs80358751(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32913771C>G
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000044625.3, RCV000113414.2, RCV000131074.2,