rs1799944
A SNP in the BRCA2 gene on chromosome 13. Its most notable genotype is G;G.
- Gene
- BRCA2
- Location
- Chr 1332,337,326 (GRCh38)
- Highest magnitude
- 2.0Worth knowing
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 6%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;A), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageA;A 87% G;G <1%
- European ancestry (Utah)A;A 94% G;G 0%
- Han Chinese (Beijing)A;A 73% G;G 0%
- Japanese (Tokyo)A;A 84% G;G 0%
- Yoruba (Nigeria)A;A 95% G;G <1%
- African ancestry (Southwest US)A;A 96% G;G 0%
- Chinese (Denver)A;A 81% G;G <1%
- Gujarati IndianA;A 69% G;G 3%
- Luhya (Kenya)A;A 92% G;G 0%
- Mexican ancestry (Los Angeles)A;A 86% G;G 0%
- Maasai (Kenya)A;A 94% G;G 0%
- TuscanA;A 90% G;G 3%
Related
Conditions, medicines and genes
Other BRCA2 SNPs
- i5009091D;Ilikely to be BRCA2 variant pathogenic for breast cancerVery important
- rs4987049A;CBRCA2 variant considered pathogenic for breast cancerVery important
- rs11571658-;TTBRCA2 variant considered pathogenic for breast cancerVery important
- rs28897743A;Gconsidered a causal BRCA2 breast cancer mutationVery important
- rs28897746C;TBRCA2 variant considered pathogenic for breast cancerVery important
- rs28897756A;ABRCA2, breast cancer mutationVery important
- rs41293477G;TBRCA2 variant considered pathogenic for breast cancerVery important
- rs41293489C;GBRCA2 variant considered pathogenic for breast cancerVery important
Notes
From SNPedia
Show notes, about 160 words
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. 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. Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes. DNA-repair genetic polymorphisms and risk of breast cancer in Cyprus. Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
Source and license
Adapted from rs1799944 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.