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rs80357669

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 2 increased risk for breast cancer
(-;C) 2 increased risk for breast cancer
(C;C) 0 Normal
ReferenceGRCh38 38.1/141
Chromosome17
Position43093074
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357669
ebirs80357669
HLIrs80357669
Exacrs80357669
Varsomers80357669
Maprs80357669
PheGenIrs80357669
hapmaprs80357669
1000 genomesrs80357669
hgdprs80357669
ensemblrs80357669
gopubmedrs80357669
geneviewrs80357669
scholarrs80357669
googlers80357669
pharmgkbrs80357669
gwascentralrs80357669
openSNPrs80357669
23andMers80357669
23andMe allrs80357669
SNP Nexus

SNPshotrs80357669
SNPdbers80357669
MSV3drs80357669
GWAS Ctlgrs80357669
Max Magnitude2

rs80357669, also known as 2457delC or p.Asp821Ilefs, is a deletion variant in the BRCA1 gene. It is considered a pathogenic mutation.[PMID 23269703OA-icon.png]


ClinVar
Risk rs80357669(;)
Alt rs80357669(;)
Reference rs80357669(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41245091delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031052.9, RCV000047845.5, RCV000131356.2, RCV000167767.4,