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rs80358556

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358556(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337458
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358556
ebirs80358556
HLIrs80358556
Exacrs80358556
Varsomers80358556
Maprs80358556
PheGenIrs80358556
hapmaprs80358556
1000 genomesrs80358556
hgdprs80358556
ensemblrs80358556
gopubmedrs80358556
geneviewrs80358556
scholarrs80358556
googlers80358556
pharmgkbrs80358556
gwascentralrs80358556
openSNPrs80358556
23andMers80358556
23andMe allrs80358556
SNP Nexus

SNPshotrs80358556
SNPdbers80358556
MSV3drs80358556
GWAS Ctlgrs80358556
Max Magnitude6
rs80358556, also known as E1035X, c.3103G>T and p.Glu1035Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358556(T;T)
Alt rs80358556(T;T)
Reference rs80358556(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32911595G>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000044119.5, RCV000077292.4, RCV000131104.2, RCV000212224.1,