Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356991

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 Normal
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356991(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104136
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356991
ebirs80356991
HLIrs80356991
Exacrs80356991
Varsomers80356991
Maprs80356991
PheGenIrs80356991
hapmaprs80356991
1000 genomesrs80356991
hgdprs80356991
ensemblrs80356991
gopubmedrs80356991
geneviewrs80356991
scholarrs80356991
googlers80356991
pharmgkbrs80356991
gwascentralrs80356991
openSNPrs80356991
23andMers80356991
23andMe allrs80356991
SNP Nexus

SNPshotrs80356991
SNPdbers80356991
MSV3drs80356991
GWAS Ctlgrs80356991
Max Magnitude6
rs80356991, also known as E143X, c.427G>T and p.Glu143Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356991(A,T;A,T)
Alt rs80356991(A,T;A,T)
Reference rs80356991(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations not specified
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations not specified
Reversed 1
HGVS NC_000017.10:g.41256153C>A; NC_000017.10:g.41256153C>G; NC_000017.10:g.41256153C>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000031162.7, RCV000048511.3, RCV000074592.6, RCV000162876.1, RCV000214652.1, RCV000031161.6, RCV000048510.5, RCV000159939.2, RCV000162967.1,