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rs80357115

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 Normal


Make rs80357115(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092597
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357115
dbSNP (classic)rs80357115
ClinGenrs80357115
ebirs80357115
HLIrs80357115
Exacrs80357115
Gnomadrs80357115
Varsomers80357115
LitVarrs80357115
Maprs80357115
PheGenIrs80357115
Biobankrs80357115
1000 genomesrs80357115
hgdprs80357115
ensemblrs80357115
geneviewrs80357115
scholarrs80357115
googlers80357115
pharmgkbrs80357115
gwascentralrs80357115
openSNPrs80357115
23andMers80357115
SNPshotrs80357115
SNPdbers80357115
MSV3drs80357115
GWAS Ctlgrs80357115
Max Magnitude6

rs80357115, also known as Y978X, c.2934T>G and p.Tyr978Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010190

ClinVar
Risk rs80357115(G;G)
Alt rs80357115(G;G)
Reference Rs80357115(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41244614A>C
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000031074.9, RCV000048017.6, RCV000162860.2, RCV000195361.4,