PKP2 T338A - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

PKP2 T338A

(PKP2 Thr338Ala)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • C @ chr12:33030802: 0.1% (16/10758) in EVS
  • C @ chr12:32922068: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (16/10758)

Publications
 

Christensen AH, Benn M, Bundgaard H, Tybjaerg-Hansen A, Haunso S, Svendsen JH. Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. J Med Genet. 2010 Nov;47(11):736-44. doi: 10.1136/jmg.2010.077891. Epub 2010 Sep 23. PubMed PMID: 20864495.

 

Genomes
 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr12:33030802

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr12:32922069

 

Other external references
 

    GeneTests
  • GeneTests records for the PKP2 gene
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKP2

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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