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

rs45580035

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs45580035(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32380043
GeneBRCA2
is asnp
is mentioned by
dbSNPrs45580035
ebirs45580035
HLIrs45580035
Exacrs45580035
Varsomers45580035
Maprs45580035
PheGenIrs45580035
hapmaprs45580035
1000 genomesrs45580035
hgdprs45580035
ensemblrs45580035
gopubmedrs45580035
geneviewrs45580035
scholarrs45580035
googlers45580035
pharmgkbrs45580035
gwascentralrs45580035
openSNPrs45580035
23andMers45580035
23andMe allrs45580035
SNP Nexus

SNPshotrs45580035
SNPdbers45580035
MSV3drs45580035
GWAS Ctlgrs45580035
Max Magnitude6

rs45580035, also known as c.9154C>T or p.Arg3052Trp, is a rare mutation in the BRCA2 gene.

The minor/rare allele is considered pathogenic for breast cancer in ClinVar.


ClinVar
Risk rs45580035(T;T)
Alt rs45580035(T;T)
Reference rs45580035(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 not provided
Reversed 0
HGVS NC_000013.10:g.32954180C>T
CLNSRC ClinVar Invitae
CLNACC RCV000045732.4, RCV000077461.5, RCV000163027.1, RCV000210144.1, RCV000221843.1,