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rs4987047

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(T;T) 2
Make rs4987047(A;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379392
GeneBRCA2
is asnp
is mentioned by
dbSNPrs4987047
ebirs4987047
HLIrs4987047
Exacrs4987047
Varsomers4987047
Maprs4987047
PheGenIrs4987047
hapmaprs4987047
1000 genomesrs4987047
hgdprs4987047
ensemblrs4987047
gopubmedrs4987047
geneviewrs4987047
scholarrs4987047
googlers4987047
pharmgkbrs4987047
gwascentralrs4987047
openSNPrs4987047
23andMers4987047
23andMe allrs4987047
SNP Nexus

SNPshotrs4987047
SNPdbers4987047
MSV3drs4987047
GWAS Ctlgrs4987047
GMAF0.007805
Max Magnitude2
? (A;A) (A;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).


ClinVar
Risk rs4987047(T;T)
Alt rs4987047(T;T)
Reference rs4987047(A;A)
Significance Non-pathogenic
Disease not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not specified Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32953529A>T
CLNSRC Ambry Genetics ClinVar Counsyl GeneDx
CLNACC RCV000034467.3, RCV000045638.6, RCV000083150.7, RCV000120365.4, RCV000131023.2,



GET Evidence
BRCA2-I2944F
aa_change Ile2944Phe
aa_change_short I2944F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0148727
summary