DES A213V - GET-Evidence

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

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Curation:
Currentness:

DES A213V

(DES Ala213Val)


Short summary

Reported in 2004 as a low penetrance allele for Restrictive myopathy and progressive skeletal myopathy. A dissertation published in 2007 (Kostareva, Karolinska Ins.) reports new evidence that it is a benign polymorphism.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated benign

(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

 

Allele frequency

  • T @ chr2:220284876: 1.1% (116/10758) in EVS
  • T @ chr2:219993119: 1.6% (2/126) in GET-Evidence
  • Frequency shown in summary reports: 1.1% (116/10758)

Publications
 

Goldfarb LG, Vicart P, Goebel HH, Dalakas MC. Desmin myopathy. Brain. 2004 Apr;127(Pt 4):723-34. Epub 2004 Jan 14. Review. PubMed PMID: 14724127.

Report low penetrance in its association with Restrictive myopathy and progressive skeletal myopathy due to its frequency of 0.02 in controls.

Genomes
 

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr2:220284876

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr2:219993120

 

Other external references
 

    dbSNP
  • rs41272699
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the DES gene
    Dilated Cardiomyopathy
    Myofibrillar Myopathy
    DES-Related Dilated Cardiomyopathy
    Desminopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DES
    PolyPhen-2
  • Score: 0.108 (benign)
    Web search results (18 hits -- see all)
  • Variable pathogenic potentials of mutations located in the ...
    Variable pathogenic potentials of mutations located in the desmin alpha-helical ... features include aberrant intracytoplasmic accumulation of desmin (DES) ...
    cat.inist.fr/?aModele=afficheN&cpsidt=18073290
  • AceView: Gene:DES, a comprehensive annotation of human, mouse ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=DES
  • Desmin myopathy -- Goldfarb et al. 127 (4): 723 -- Brain
    The A213V desmin variant was detected in two unrelated patients, one having ... Although the A213V substitution was seen in four control individuals out of 199 ...
    brain.oxfordjournals.org/cgi/...?view=long&pmid=14724127
  • Desmin myopathy
    Desmin is encoded by a single copy gene (DES) and has been ... the A213V substitution was seen in four control individuals. out of 199 tested, and ...
    brain.oxfordjournals.org/cgi/reprint/awh033v1.pdf
  • Characterization of the specificity of human neutrophil ...
    Des Weiteren scheint auch die Sekundär- und Tertiärstruktur des Substrats nicht ... NE mutants F192A, F192K and A213V. NE mutants F215Y and F215A. NE ...
    edoc.hu-berlin.de/dissertationen/.../XML/front.xml
  • Petra Averhoff: Characterization of the specificity of human ...
    Characterization of the specificity of human neutrophil elastase for Shigella ... Des Weiteren scheint auch die Sekundär- und Tertiärstruktur des Substrats nicht ...
    edoc.hu-berlin.de/dissertationen/.../HTML
  • Anna Kostareva
    Department of Woman and Child Health, Karolinska Institutet. Gunnar Sjoberg, MD, PhD ... All encoding exons of the desmin gene (DES) were analyzed. ...
    diss.kib.ki.se/2007/978-91-7357-294-1/thesis.pdf
  • Miopatía por Desmina
    La desmina es codificada por un gen único (DES) localizado en el cromosoma 2q35. ... La variante A213V parece ser una mutación de baja penetrancia. ...
    www.bago.com/BagoArg/Biblio/neuroweb359.htm
  • manuels de services de Sharp Page 111
    Pilotes: 30156Fichiers Dll: 19530Manuels: 20791Total des fichiers: 70477 ... Sharp XE-A203, XE-A213V Pièces détachées. Telecharger 1441.74 Kb. Sharp ...
    www.nodevice.fr/manual/Sharp/page111.html
  • Variable pathogenic potentials of mutations located in the ...
    Mutations in the desmin gene have been recognized as a cause of desminopathy, a familial or sporadic disorder characterized by skeletal muscle weakness, often ...
    www.medscape.com/medline/abstract/16865695

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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