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rs4987117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(T;T) 2
Make rs4987117(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340099
GeneBRCA2
is asnp
is mentioned by
dbSNPrs4987117
ebirs4987117
HLIrs4987117
Exacrs4987117
Varsomers4987117
Maprs4987117
PheGenIrs4987117
hapmaprs4987117
1000 genomesrs4987117
hgdprs4987117
ensemblrs4987117
gopubmedrs4987117
geneviewrs4987117
scholarrs4987117
googlers4987117
pharmgkbrs4987117
gwascentralrs4987117
openSNPrs4987117
23andMers4987117
23andMe allrs4987117
SNP Nexus

SNPshotrs4987117
SNPdbers4987117
MSV3drs4987117
GWAS Ctlgrs4987117
GMAF0.01148
Max Magnitude2
? (C;C) (C;T) (T;T) 28

This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.

For this particular SNP, the risk (minor) allele is (T).

Neighborrs1799954
Distance356

[PMID 20010525] Association between polymorphisms of the BRCA2 gene and clinical parameters in breast cancer.


GET Evidence
BRCA2-T1915M
aa_change Thr1915Met
aa_change_short T1915M
impact protective
qualified_impact Low clinical importance, Uncertain protective
overall_frequency 0.0205429
summary Serrano-Fernández et al. found this variant to be associated with a modest (OR = 1.61) but significant (P = 0.0007) reduction in breast cancer risk.



ClinVar
Risk rs4987117(T;T)
Alt rs4987117(T;T)
Reference rs4987117(C;C)
Significance Other
Disease not provided Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN not provided Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32914236C>T
CLNSRC HGMD
CLNACC RCV000034450.3, RCV000113476.6, RCV000119140.3, RCV000120330.6, RCV000128885.3,