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rs80357662

From SNPedia

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


Make rs80357662(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093975
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357662
ebirs80357662
HLIrs80357662
Exacrs80357662
Varsomers80357662
Maprs80357662
PheGenIrs80357662
hapmaprs80357662
1000 genomesrs80357662
hgdprs80357662
ensemblrs80357662
gopubmedrs80357662
geneviewrs80357662
scholarrs80357662
googlers80357662
pharmgkbrs80357662
gwascentralrs80357662
openSNPrs80357662
23andMers80357662
23andMe allrs80357662
SNP Nexus

SNPshotrs80357662
SNPdbers80357662
MSV3drs80357662
GWAS Ctlgrs80357662
Max Magnitude6
rs80357662, also known as 1675delA, c.1556_1556delA and p.Lys519Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar. This mutation is reported as a founder mutation in Norway.

This mutation appears to be renamed i4000461 by 23andMe.

ClinVar
Risk rs80357662(;)
Alt rs80357662(;)
Reference rs80357662(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41245992delT
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000019255.9, RCV000047522.2, RCV000129703.2, RCV000235933.1,