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rs80358152

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80358152(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43082402
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358152
ebirs80358152
HLIrs80358152
Exacrs80358152
Varsomers80358152
Maprs80358152
PheGenIrs80358152
hapmaprs80358152
1000 genomesrs80358152
hgdprs80358152
ensemblrs80358152
gopubmedrs80358152
geneviewrs80358152
scholarrs80358152
googlers80358152
pharmgkbrs80358152
gwascentralrs80358152
openSNPrs80358152
23andMers80358152
23andMe allrs80358152
SNP Nexus

SNPshotrs80358152
SNPdbers80358152
MSV3drs80358152
GWAS Ctlgrs80358152
Max Magnitude6

rs80358152, also known as both c.4357+2T>G and c.4357+2T>C, represents a rare variant in the BRCA1 gene.

Both minor variants are considered pathogenic for breast cancer in ClinVar.


ClinVar
Risk rs80358152(C,G;C,G)
Alt rs80358152(C,G;C,G)
Reference rs80358152(T;T)
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.41234419A>C; NC_000017.10:g.41234419A>G
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000077146.3, RCV000048536.2, RCV000077571.2,