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rs80358116

From SNPedia

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


Make rs80358116(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104262
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358116
ebirs80358116
HLIrs80358116
Exacrs80358116
Varsomers80358116
Maprs80358116
PheGenIrs80358116
hapmaprs80358116
1000 genomesrs80358116
hgdprs80358116
ensemblrs80358116
gopubmedrs80358116
geneviewrs80358116
scholarrs80358116
googlers80358116
pharmgkbrs80358116
gwascentralrs80358116
openSNPrs80358116
23andMers80358116
23andMe allrs80358116
SNP Nexus

SNPshotrs80358116
SNPdbers80358116
MSV3drs80358116
GWAS Ctlgrs80358116
Max Magnitude6

rs80358116 represents a rare variant in the BRCA1 gene. It is also rare in that all three possible alternative alleles are known, and, all three are reported to be pathogenic for breast cancer in ClinVar.

The major allele is rs80358116(G). The three alternatives are c.302-1G>T, c.302-1G>C and c.302-1G>A, the latter of which appears to be tested on at least some 23andMe chips under the pseudonym i5009555.


ClinVar
Risk rs80358116(A,C,T;A,C,T)
Alt rs80358116(A,C,T;A,C,T)
Reference rs80358116(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41256279C>A; NC_000017.10:g.41256279C>G; NC_000017.10:g.41256279C>T
CLNSRC Breast Cancer Information Core (BRCA1) Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000112247.1, RCV000048044.2, RCV000191156.2, RCV000048043.2, RCV000112246.1,