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rs1799944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(G;G) 2
Make rs1799944(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337326
GeneBRCA2
is asnp
is mentioned by
dbSNPrs1799944
ebirs1799944
HLIrs1799944
Exacrs1799944
Varsomers1799944
Maprs1799944
PheGenIrs1799944
hapmaprs1799944
1000 genomesrs1799944
hgdprs1799944
ensemblrs1799944
gopubmedrs1799944
geneviewrs1799944
scholarrs1799944
googlers1799944
pharmgkbrs1799944
gwascentralrs1799944
openSNPrs1799944
23andMers1799944
23andMe allrs1799944
SNP Nexus

SNPshotrs1799944
SNPdbers1799944
MSV3drs1799944
GWAS Ctlgrs1799944
GMAF0.06244
Max Magnitude2
? (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
Variation info
Gene BRCA2
CLNDBN not provided Breast-ovarian cancer, familial 2 not specified Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32911463A>G
CLNSRC Inc. HGMD
CLNACC RCV000034436.3, RCV000113122.4, RCV000120317.5, RCV000130999.3,



[PMID 16857995OA-icon.png] 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 19276285OA-icon.png] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.


GET Evidence
BRCA2-N991D
aa_change Asn991Asp
aa_change_short N991D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0349963
summary