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

rs80358002

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80358002(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43047705
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358002
ebirs80358002
HLIrs80358002
Exacrs80358002
Varsomers80358002
Maprs80358002
PheGenIrs80358002
hapmaprs80358002
1000 genomesrs80358002
hgdprs80358002
ensemblrs80358002
gopubmedrs80358002
geneviewrs80358002
scholarrs80358002
googlers80358002
pharmgkbrs80358002
gwascentralrs80358002
openSNPrs80358002
23andMers80358002
23andMe allrs80358002
SNP Nexus

SNPshotrs80358002
SNPdbers80358002
MSV3drs80358002
GWAS Ctlgrs80358002
Max Magnitude6

rs80358002, known also as both c.5407-2A>T and c.5407-2A>G, is a rare variant in the BRCA1 gene.

ClinVar designates both minor alleles as pathogenic for breast cancer.


ClinVar
Risk rs80358002(G,T;G,T)
Alt rs80358002(G,T;G,T)
Reference rs80358002(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41199722T>A; NC_000017.10:g.41199722T>C
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112646.1, RCV000048980.2, RCV000112645.1,