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rs80357093

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 4 considered a pathogenic breast cancer variant
(G;G) 0 common in clinvar


Make rs80357093(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106486
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357093
ebirs80357093
HLIrs80357093
Exacrs80357093
Varsomers80357093
Maprs80357093
PheGenIrs80357093
hapmaprs80357093
1000 genomesrs80357093
hgdprs80357093
ensemblrs80357093
gopubmedrs80357093
geneviewrs80357093
scholarrs80357093
googlers80357093
pharmgkbrs80357093
gwascentralrs80357093
openSNPrs80357093
23andMers80357093
23andMe allrs80357093
SNP Nexus

SNPshotrs80357093
SNPdbers80357093
MSV3drs80357093
GWAS Ctlgrs80357093
Max Magnitude4

rs80357093 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 61. The more common rs80357093(G) allele (in dbSNP orientation) encodes Cys, while the rare rs80357093(A) allele encodes Tyr; this variation is also known as Cys61Tyr or C61Y.

This variant is considered pathogenic for breast cancer by ClinVar's Sharing Clinical Reports Project.

ClinVar
Risk rs80357093(A;A)
Alt rs80357093(A;A)
Reference rs80357093(G;G)
Significance Other
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41258503C>T
CLNSRC ClinVar
CLNACC RCV000047602.2, RCV000077497.4, RCV000235674.1,