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

rs80357971

From SNPedia

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


Make rs80357971(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092849
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357971
ebirs80357971
HLIrs80357971
Exacrs80357971
Varsomers80357971
Maprs80357971
PheGenIrs80357971
hapmaprs80357971
1000 genomesrs80357971
hgdprs80357971
ensemblrs80357971
gopubmedrs80357971
geneviewrs80357971
scholarrs80357971
googlers80357971
pharmgkbrs80357971
gwascentralrs80357971
openSNPrs80357971
23andMers80357971
23andMe allrs80357971
SNP Nexus

SNPshotrs80357971
SNPdbers80357971
MSV3drs80357971
GWAS Ctlgrs80357971
Max Magnitude6

rs80357971, also known as 2800delAA, c.2681_2682delAA and p.Lys894Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80357971(;)
Alt rs80357971(;)
Reference rs80357971(AA;AA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244866_41244867delTT
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000019236.9, RCV000047927.5, RCV000074575.6, RCV000131876.2,