MBL2 R52C - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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MBL2 R52C

(MBL2 Arg52Cys)


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Short summary

This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. 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).

Variant evidence
Computational 2

Other mutations in the gene are associated with mannose binding protein deficiency, NBLOSUM = 5.

See unpublished research (below).

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Total cases/controls case+ case– control+ control– p-value odds ratio
Mannose-Binding Lectin Deficiency
6 95 0 47 0.1772

 

Allele frequency

  • A @ chr10:54531242: 4.9% (523/10758) in EVS
  • A @ chr10:54201247: 4.0% (5/126) in GET-Evidence
  • Frequency shown in summary reports: 4.9% (523/10758)

Publications
 

Garred P, Madsen HO, Hofmann B, Svejgaard A. Increased frequency of homozygosity of abnormal mannan-binding-protein alleles in patients with suspected immunodeficiency. Lancet. 1995 Oct 7;346(8980):941-3. PubMed PMID: 7564730.

A study of patients with suspected immunodeficiency found a higher number of homozygous and compound heterozygous patients with abnormal mannan-binding protein (MBP) alleles (variants B, C, and D). In the case group of 101 patients, one patient was homozygous for D and five were compound heterozygous for B/D. No patients in the control population of 47 patients were homozygous or compound heterozygous.

Cases/controls case+ case– control+ control– p-value odds ratio
Mannose-Binding Lectin Deficiency
6 95 0 47 0.1772

 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr10:54531242

 

snp-6

 

Other external references
 

    dbSNP
  • rs5030737
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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