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rs80357887

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CT) 6 BRCA1 variant considered pathogenic for breast cancer
(CT;CT) 0 Normal


Make rs80357887(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43099851
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357887
ebirs80357887
HLIrs80357887
Exacrs80357887
Varsomers80357887
Maprs80357887
PheGenIrs80357887
hapmaprs80357887
1000 genomesrs80357887
hgdprs80357887
ensemblrs80357887
gopubmedrs80357887
geneviewrs80357887
scholarrs80357887
googlers80357887
pharmgkbrs80357887
gwascentralrs80357887
openSNPrs80357887
23andMers80357887
23andMe allrs80357887
SNP Nexus

SNPshotrs80357887
SNPdbers80357887
MSV3drs80357887
GWAS Ctlgrs80357887
Max Magnitude6
rs80357887, also known as 589delCT, c.470_471delCT and p.Ser157Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357887(;)
Alt rs80357887(;)
Reference rs80357887(CT;CT)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41251868_41251869delAG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031189.5, RCV000048637.4, RCV000131836.2, RCV000203622.1,