MTMR2 N545S - GET-Evidence

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

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Curation:
Currentness:

MTMR2 N545S

(MTMR2 Asn545Ser)


Short summary

This variant, present in all versions, was found in one patient with autosomal recessive Charcot-Marie-Tooth type 4B, but the compounding variant was not found.

Variant evidence
Computational -
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
Charcot-Marie-Tooth Neuropathy Type 4
1 181 0 187 0.4932

 

Allele frequency

  • C @ chr11:95569448: 1.3% (145/10758) in EVS
  • C @ chr11:95209095: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 1.3% (145/10758)

Publications
 

Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR. Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. Neurogenetics. 2001 Mar;3(2):107-9. PubMed PMID: 11354824.

This variant, present in all versions, was found in one patient with autosomal recessive Charcot-Marie-Tooth type 4B, but the compounding variant was not found. It was also seen in the unaffected sister of proband. 181 probands were screened and 187 controls (384 control chromosomes). This patient was one of 20 with a subclass of disease called congenital hypomyelinating neuropathy (CHN). The OR for this subgroup would be 9.4. The authors conclude that this may be a recessive variant with the second mutation not found, or a rare polymorphism.

Cases/controls case+ case– control+ control– p-value odds ratio
Charcot-Marie-Tooth Neuropathy Type 4
1 181 0 187 0.4932

 

Genomes
 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr11:95209096

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr11:95209096

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr11:95209096

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr11:95209096

 

Other external references
 

    dbSNP
  • rs558018
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (2 hits -- see all)
  • Inherited Peripheral Neuropathies
    Mutations in MTMR2. Name. c.8C>A. Alias. Thr3Lys. Description. Point mutation in coding region ... [N545S] + [?] Region. EX14. CDS. Date Added: 28-Jun-01. ID: 499. Name. c. ...
    molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?...

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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