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rs80358137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 BRCA1 variant of unclear significance
(G;G) 0 common in clinvar


Make rs80358137(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063374
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358137
ebirs80358137
HLIrs80358137
Exacrs80358137
Varsomers80358137
Maprs80358137
PheGenIrs80358137
hapmaprs80358137
1000 genomesrs80358137
hgdprs80358137
ensemblrs80358137
gopubmedrs80358137
geneviewrs80358137
scholarrs80358137
googlers80358137
pharmgkbrs80358137
gwascentralrs80358137
openSNPrs80358137
23andMers80358137
23andMe allrs80358137
SNP Nexus

SNPshotrs80358137
SNPdbers80358137
MSV3drs80358137
GWAS Ctlgrs80358137
Max Magnitude3

c.5153-1G>A

some ClinVar reports indicate pathogenicity, others don't

ClinVar
Risk rs80358137(A,C,T;A,C,T)
Alt rs80358137(A,C,T;A,C,T)
Reference rs80358137(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41215391C>A; NC_000017.10:g.41215391C>G; NC_000017.10:g.41215391C>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 RCV000048828.2, RCV000031224.6, RCV000048827.2, RCV000048826.2, RCV000112530.1,