{{Rsnum
|rsid=1799944
|Gene=BRCA2
|Chromosome=13
|position=32337326
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.06244
|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 | 93.8 | 6.2 | 0.0
| HCB | 72.8 | 27.2 | 0.0
| JPT | 84.1 | 15.9 | 0.0
| YRI | 94.5 | 4.8 | 0.7
| ASW | 96.4 | 3.6 | 0.0
| CHB | 72.8 | 27.2 | 0.0
| CHD | 80.7 | 18.3 | 0.9
| GIH | 69.3 | 27.7 | 3.0
| LWK | 91.6 | 8.4 | 0.0
| MEX | 86.2 | 13.8 | 0.0
| MKK | 93.5 | 6.5 | 0.0
| TSI | 90.2 | 6.9 | 2.9
| HapMapRevision=28
}}One form of this SNP, known as N991D, A3199G or Asn991Asp for the nonsynonymous change it produces in the [[BRCA2]] protein, has been reported to represent an increased risk for malignant [[melanoma]]. In a Polish study of ~600 patients in comparison with ~3700 controls, the [[rs1799944]] SNP was found to have an odds ratio of 1.8. Patients with the homozygous [[rs1799944(G;G)]] genotype were present in 0.32% of malignant [[melanoma]] cases vs. 0.13% of controls. {{PMID|18024013}}

In two Chinese families with histories of inherited [[breast cancer]], A1093C (Asn289His) in exon 10 and A3199G (Asn991Asp, i.e. [[rs1799944]]) in exon 11 of BRCA2 were found occurring together, and they were not seen in pooled control DNA.{{PMID|15059511}}

{{ClinVar
|rsid=1799944
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=32911463
|CHROM=13
|GMAF=0.0623
|dbSNPBuildID=89
|SSR=0
|SAO=0
|VP=0x050168000000150517100101
|GENEINFO=BRCA2:675
|GENE_NAME=BRCA2
|GENE_ID=675
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.32911463A>G
|CLNSIG=2
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD
|CAF=0.9376; 0.06244
|CLNACC=RCV000034436.1
|CLNDBN=not provided
|COMMON=1
|Disease=not provided
}}

{{PMID|16857995|OA=1
}} Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.

{{PMID|18553220}} DNA-repair genetic polymorphisms and risk of breast cancer in Cyprus.

{{PMID|19276285|OA=1
}} Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.

{{GET Evidence
|gene=BRCA2
|aa_change=Asn991Asp
|aa_change_short=N991D
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1799944
|overall_frequency_n=376
|overall_frequency_d=10744
|overall_frequency=0.0349963
|n_genomes=7
|n_genomes_annotated=0
|n_haplomes=7
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|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}}
{{on chip | Illumina Human 1M}}