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rs4987049

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs4987049(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32398437
GeneBRCA2
is asnp
is mentioned by
dbSNPrs4987049
ebirs4987049
HLIrs4987049
Exacrs4987049
Varsomers4987049
Maprs4987049
PheGenIrs4987049
hapmaprs4987049
1000 genomesrs4987049
hgdprs4987049
ensemblrs4987049
gopubmedrs4987049
geneviewrs4987049
scholarrs4987049
googlers4987049
pharmgkbrs4987049
gwascentralrs4987049
openSNPrs4987049
23andMers4987049
23andMe allrs4987049
SNP Nexus

SNPshotrs4987049
SNPdbers4987049
MSV3drs4987049
GWAS Ctlgrs4987049
Max Magnitude6

rs4987049, also known as c.9924C>G or p.Tyr3308Ter, is a rare mutation in the BRCA2 gene.

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

? (C;C) (C;G) (G;G) 28
ClinVar
Risk rs4987049(G,T;G,T)
Alt rs4987049(G,T;G,T)
Reference rs4987049(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided not specified
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided not specified
Reversed 0
HGVS NC_000013.10:g.32972574C>G; NC_000013.10:g.32972574C>T
CLNSRC Inc. Breast Cancer Information Core (BRCA2)
CLNACC RCV000045914.5, RCV000077479.6, RCV000131045.3, RCV000221171.1, RCV000045915.4, RCV000112823.1, RCV000163121.1, RCV000195310.3,