{{Rsnum
|rsid=5030737
|Gene=MBL2
|Chromosome=10
|position=52771482
|Orientation=minus
|GMAF=0.02847
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=MBL2
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 85.6 | 14.4 | 0.0
| HCB | 98.5 | 1.5 | 0.0
| JPT | 98.2 | 1.8 | 0.0
| YRI | 99.3 | 0.7 | 0.0
| ASW | 98.2 | 1.8 | 0.0
| CHB | 98.5 | 1.5 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 93.1 | 6.9 | 0.0
| LWK | 96.4 | 3.6 | 0.0
| MEX | 96.4 | 3.6 | 0.0
| MKK | 89.1 | 10.9 | 0.0
| TSI | 90.1 | 9.9 | 0.0
| HapMapRevision=28
}}

{{omim
|id=154545
|desc=LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2
|rsnum=5030737
}}

{{omim
|id=154545
|rsnum=5030737
|variant=0003
}}

{{ClinVar
|rsid=5030737
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=54531242
|CHROM=10
|GMAF=0.0284
|dbSNPBuildID=113
|SSR=0
|SAO=1
|VP=0x050168000000150517110100
|GENEINFO=MBL2:4153
|GENE_NAME=MBL2
|GENE_ID=4153
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.54531242G>A
|CLNSRC=GTR; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=GTR000509360; 154545.0003
|CLNSIG=5
|CLNCUI=C1835140
|CLNDBN=Mannose-binding protein deficiency
|Disease=Mannose-binding protein deficiency
|CLNACC=RCV000015426.24
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9715; 0.02847
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C1835140:614372
|COMMON=1
}}

{{PMID Auto
|PMID=18396467
|Title=Genetic variation and haplotype structures of innate immunity genes in eastern India.
|OA=1
}}

{{PMID Auto
|PMID=18452612
|Title=MBL2 and hepatitis C virus infection among injection drug users.
|OA=1
}}

{{PMID Auto
|PMID=18936436
|Title=Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
|OA=1
}}

{{PMID Auto
|PMID=19366862
|Title=Elevated MBL concentrations are not an indication of association between the MBL2 gene and type 1 diabetes or diabetic nephropathy.
|OA=1
}}

{{PMID Auto
|PMID=20041166
|Title=Common genetic variation and the control of HIV-1 in humans.
|OA=1
}}

{{PMID Auto
|PMID=20042521
|Title=Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from noninfectious systemic inflammatory response syndrome.
|OA=1
}}

{{PMID Auto
|PMID=20196868
|Title=Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.
|OA=1
}}

{{PMID Auto
|PMID=20463618
|Title=Role of polymorphic variants as genetic modulators of infection in neonatal sepsis.
|OA=1
}}

{{PMID Auto
|PMID=20465856
|Title=Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes.
|OA=1
}}

{{PMID Auto
|PMID=21211797
|Title=Mannose binding lectin 2 haplotypes do not affect the progression of coronary atherosclerosis in men with proven coronary artery disease treated with pravastatin.
}}

{{PMID Auto
|PMID=22417159
|Title=DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.
}}

{{GET Evidence
|gene=MBL2
|aa_change=Arg52Cys
|aa_change_short=R52C
|impact=pathogenic
|qualified_impact=Low clinical importance, Likely pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs5030737
|overall_frequency_n=523
|overall_frequency_d=10758
|overall_frequency=0.048615
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=5
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=3
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=2
|qualitycomment_severity=Y
|qualityscore_treatability=0
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.999
|genetests_testable=Y
|nblosum100=8
|max_or_disease_name=Mannose-Binding Lectin Deficiency
|max_or_case_pos=18
|max_or_case_neg=477
|max_or_control_pos=4
|max_or_control_neg=501
|max_or_or=4.726
|autoscore=5
|webscore=N
|n_web_uneval=8
|variant_evidence=0
|clinical_importance=1
|summary_short=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 D. See G54D (variant B) and G57E (variant C).
}}

{{PMID Auto
|PMID=22848725
|Title=Mannose-binding lectin deficiency is associated with myocardial infarction: the HUNT2 study in Norway.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}