{{Rsnum
|rsid=4987047
|Gene=BRCA2
|Chromosome=13
|position=32379392
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=T
|GMAF=0.007805
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=BRCA2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 89.1 | 10.2 | 0.7
| ASW | 0.0 | 0.0 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 90.9 | 9.1 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 93.6 | 6.4 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=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
|rsid=4987047
|Reversed=0
|FwdREF=A
|FwdALT=T
|REF=A
|ALT=T
|RSPOS=32953529
|CHROM=13
|GMAF=0.0078
|dbSNPBuildID=113
|SSR=0
|SAO=0
|VP=0x050360000000050517100101
|GENEINFO=BRCA2:675
|GENE_NAME=BRCA2
|GENE_ID=675
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.32953529A>T
|CLNSIG=2
|Tags=PM;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD
|CAF=0.9922; 0.007805
|CLNACC=RCV000034467.1; RCV000045638.2; RCV000083150.1
|CLNDBN=not provided; Familial cancer of breast; Breast-ovarian cancer, familial 2
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1247:C0346153:114480:254843006; NBK1247:C2675520:612555:145
|COMMON=1
|Disease=not provided; Familial cancer of breast; Breast-ovarian cancer
}}

{{GET Evidence
|gene=BRCA2
|aa_change=Ile2944Phe
|aa_change_short=I2944F
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4987047
|overall_frequency_n=160
|overall_frequency_d=10758
|overall_frequency=0.0148727
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=4
|n_web_uneval=10
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}