MPO M251T - GET-Evidence

Curation:
Currentness:

MPO M251T

(MPO Met251Thr)


Short summary

A single sporadic observation implicated this variant in causing myeloperoxidase (MPO) deficiency in a recessive manner, but lacks any statistical significance. MPO deficiency generally causes no symptoms, but there are reports of associations with some cancers.

Variant evidence
Computational 1

Polyphen 2 predicts probably damaging

Functional -
Case/Control -
Familial

Only a sporadic report — observation in the father of a family, no statistical significance

See 9354683.

 
Clinical importance
Severity 1

MPO deficiency generally not symptomatic, but reported to have association with some cancers

Treatability

no standard treatment

Penetrance 5

Hypothesized effect is complete or highly penetrant

See 9354683.

 

Impact

Low clinical importance, Uncertain pathogenic

(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr17:56356502: 0.9% (98/10758) in EVS
  • G @ chr17:53711500: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (98/10758)

Publications
 

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PubMed PMID: 9354683

Studying a small family with complete myeloperoxidase deficiency, both daughter and father were affected. The father was compound heterozygous for this and a deletion variant, while the daughter inherited the deletion variant. The authors believe this to be a causal mutation.

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.903 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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