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rs80358998

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358998(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32331009
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358998
ebirs80358998
HLIrs80358998
Exacrs80358998
Varsomers80358998
Maprs80358998
PheGenIrs80358998
hapmaprs80358998
1000 genomesrs80358998
hgdprs80358998
ensemblrs80358998
gopubmedrs80358998
geneviewrs80358998
scholarrs80358998
googlers80358998
pharmgkbrs80358998
gwascentralrs80358998
openSNPrs80358998
23andMers80358998
23andMe allrs80358998
SNP Nexus

SNPshotrs80358998
SNPdbers80358998
MSV3drs80358998
GWAS Ctlgrs80358998
Max Magnitude6
rs80358998, also known as Q258X, c.772C>T and p.Gln258Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358998(T;T)
Alt rs80358998(T;T)
Reference rs80358998(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.32905146C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000045296.3, RCV000077409.3, RCV000131846.1,