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rs80358030

From SNPedia

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


Make rs80358030(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43099774
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358030
ebirs80358030
HLIrs80358030
Exacrs80358030
Varsomers80358030
Maprs80358030
PheGenIrs80358030
hapmaprs80358030
1000 genomesrs80358030
hgdprs80358030
ensemblrs80358030
gopubmedrs80358030
geneviewrs80358030
scholarrs80358030
googlers80358030
pharmgkbrs80358030
gwascentralrs80358030
openSNPrs80358030
23andMers80358030
23andMe allrs80358030
SNP Nexus

SNPshotrs80358030
SNPdbers80358030
MSV3drs80358030
GWAS Ctlgrs80358030
Max Magnitude6

rs80358030, known as c.547+1G>A and also c.547+1G>T, represents a rare variant in the BRCA1 gene.

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

ClinVar
Risk rs80358030(A,T;A,T)
Alt rs80358030(A,T;A,T)
Reference rs80358030(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41251791C>A; NC_000017.10:g.41251791C>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049008.4, RCV000112730.1, RCV000212159.1, RCV000216456.1, RCV000112729.1,