|(A;A)||1.6||mannose binding deficiency but of low clinical importance|
|(A;G)||1.1||carrier of mannose binding deficiency but of low clinical importance|
|(G;G)||0||common in clinvar|
related to non-Hodgkin's lymphoma[PMID 20522590] Functional Variants in MBL2 are Associated with Type 2 diabetes and Pre-diabetic Traits in Pima Indians and the Old Order Amish
[PMID 22340886] [Association between mannose-binding-lectin gene and type 2 diabetic patients in Chinese population living in the northern areas of China]
[PMID 22363494] Mannose-Binding Lectin 2 Polymorphisms Do Not Influence Frequency or Type of Infection in Adults with Chemotherapy Induced Neutropaenia
|Disease||Mannose-binding protein deficiency|
|CLNDBN||Mannose-binding protein deficiency|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
[PMID 17366837] Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.
[PMID 18091754] Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10.
[PMID 18182569] Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group.
[PMID 18396467] Genetic variation and haplotype structures of innate immunity genes in eastern India.
[PMID 18452612] MBL2 and hepatitis C virus infection among injection drug users.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19366862] Elevated MBL concentrations are not an indication of association between the MBL2 gene and type 1 diabetes or diabetic nephropathy.
[PMID 19432958] Haplotype specific-sequencing reveals MBL2 association with asymptomatic Plasmodium falciparum infection.
[PMID 20041166] Common genetic variation and the control of HIV-1 in humans.
[PMID 20042521] Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from noninfectious systemic inflammatory response syndrome.
[PMID 20196868] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.
[PMID 20465856] Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes.
[PMID 21211797] Mannose binding lectin 2 haplotypes do not affect the progression of coronary atherosclerosis in men with proven coronary artery disease treated with pravastatin.
[PMID 22183303] The association between the mannose-binding lectin codon 54 polymorphism and systemic lupus erythematosus: a meta-analysis update.
[PMID 22417159] DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.
[PMID 22994203] MBL2 gene variation affecting serum MBL is associated with prosthetic joint infection in Czech patients after total joint arthroplasty
|qualified_impact||Low clinical importance, Likely pathogenic|
|summary||This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).|
[PMID 22820623] Association of MIF-173G/C and MBL2 codon 54 gene polymorphisms with rheumatoid arthritis: a meta-analysis.
[PMID 22848725] Mannose-binding lectin deficiency is associated with myocardial infarction: the HUNT2 study in Norway.
[PMID 23251429] Inflammation and immune-related candidate gene associations with acute lung injury susceptibility and severity: a validation study.
[PMID 24952212] Age-dependent Association of Mannose-Binding Lectin Polymorphisms with the Development of Pulmonary Tuberculosis in Viet Nam
[PMID 25902400] Polymorphisms in the inflammatory pathway genes and the risk of preeclampsia in Sinhalese women