rs1799944
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (G;G) | 2 |
| Make rs1799944(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32337326 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799944 |
| dbSNP (classic) | rs1799944 |
| ClinGen | rs1799944 |
| ebi | rs1799944 |
| HLI | rs1799944 |
| Exac | rs1799944 |
| Gnomad | rs1799944 |
| Varsome | rs1799944 |
| LitVar | rs1799944 |
| Map | rs1799944 |
| PheGenI | rs1799944 |
| Biobank | rs1799944 |
| 1000 genomes | rs1799944 |
| hgdp | rs1799944 |
| ensembl | rs1799944 |
| geneview | rs1799944 |
| scholar | rs1799944 |
| rs1799944 | |
| pharmgkb | rs1799944 |
| gwascentral | rs1799944 |
| openSNP | rs1799944 |
| 23andMe | rs1799944 |
| SNPshot | rs1799944 |
| SNPdbe | rs1799944 |
| MSV3d | rs1799944 |
| GWAS Ctlg | rs1799944 |
| GMAF | 0.06244 |
| Max Magnitude | 2 |
| ? | (A;A) (A;G) (G;G) | 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 | |
|---|---|
| Risk | Rs1799944(G;G) |
| Alt | Rs1799944(G;G) |
| Reference | Rs1799944(A;A) |
| Significance | Non-pathogenic |
| Disease | not provided Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Fanconi anemia Familial cancer of breast |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | not provided Breast-ovarian cancer, familial 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Fanconi anemia Familial cancer of breast |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32911463A>G |
| CLNSRC | HGMD |
| CLNACC | RCV000034436.4, RCV000113122.4, RCV000120317.7, RCV000130999.3, RCV000320859.2, RCV000377822.1, RCV000471695.1, |
[PMID 16857995
] 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] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
