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rs80357711

From SNPedia

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


Make rs80357711(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091496
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357711
ebirs80357711
HLIrs80357711
Exacrs80357711
Varsomers80357711
Maprs80357711
PheGenIrs80357711
hapmaprs80357711
1000 genomesrs80357711
hgdprs80357711
ensemblrs80357711
gopubmedrs80357711
geneviewrs80357711
scholarrs80357711
googlers80357711
pharmgkbrs80357711
gwascentralrs80357711
openSNPrs80357711
23andMers80357711
23andMe allrs80357711
SNP Nexus

SNPshotrs80357711
SNPdbers80357711
MSV3drs80357711
GWAS Ctlgrs80357711
Max Magnitude6
rs80357711, also known as 4154delA, 4035delA, 4135delA, c.4035_4035delA and p.Glu1345=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar. It is considered to be a founder mutation in Russia and nearby Baltic countries (Poland, Latvia).

This mutation appears to be renamed i4000459 by 23andMe.

ClinVar
Risk rs80357711(;)
Alt rs80357711(;)
Reference rs80357711(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41243513delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031141.7, RCV000048413.5, RCV000074587.6, RCV000130638.2, RCV000239274.1,