{{Rsnum
|rsid=169547
|Gene=BRCA2
|Chromosome=13
|position=32355250
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.0225
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=BRCA2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 15.9 | 84.1
| ASW | 0.0 | 19.6 | 80.4
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 1.9 | 98.1
| GIH | 0.0 | 6.2 | 93.8
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 1.3 | 11.7 | 87.0
| TSI | 0.0 | 6.2 | 93.8
| HapMapRevision=28
}}

{{Venter SNP
|rsid=169547
|allele=C
|frequency=1
|uid=1103649191238
|type=homozygous_SNP
|hugo=BRCA2
|ensembl gene=ENSG00000139618
|ensembl transcript=ENST00000267071
|sift=TOLERATED
|disease=Defects in BRCA2 are a cause of genetic susceptibility to breast cancer (BC) (MIM:600185, 114480). BC is an extremely common malignancy, affecting one in eight women during their lifetime. A positive family history has been identified as major contributor to risk of development of the disease, and this link is striking for early-onset breast cancer. Mutations in BRCA2 are thought to be responsible for some inherited breast cancer. It is linked with male breast cancer.
}}

{{ClinVar
|rsid=169547
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=32929387
|CHROM=13
|GMAF=0.0224
|dbSNPBuildID=79
|SSR=0
|SAO=0
|VP=0x05016000000015051f100101
|WGT=0
|VC=SNV
|CLNALLE=0
|CLNHGVS=NC_000013.10:g.32929387T\x3d
|CLNSIG=1
|Tags=RV;PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.0225; 0.9775
|CLNACC=RCV000045197.2
|CLNDBN=Familial cancer of breast
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1247:C0346153:114480:254843006
|COMMON=1
|Disease=Familial cancer of breast
|GENEINFO=BRCA2:675
|GENE_ID=675
|GENE_NAME=BRCA2
}}

{{GET Evidence
|gene=BRCA2
|aa_change=Val2466Ala
|aa_change_short=V2466A
|impact=benign
|qualified_impact=Insufficiently evaluated benign
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs169547
|overall_frequency_n=10511
|overall_frequency_d=10754
|overall_frequency=0.977404
|n_genomes=51
|n_genomes_annotated=0
|n_haplomes=99
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=3
|n_web_uneval=1
|summary_short=The valine variant was associated with ovarian cancer in one patient, but was later reported as a benign polymorphism in the Yoruba population.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}