DSC2 R798Q - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

DSC2 R798Q

(DSC2 Arg798Gln)


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

  • T @ chr18:28648975: 3.3% (356/10758) in EVS
  • T @ chr18:26902972: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 3.3% (356/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr18:28648975

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr18:28648975

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr18:28648975

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr18:28648975

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr18:28648975

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr18:28648975

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr18:28648975

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr18:26902973

 

Other external references
 

    dbSNP
  • rs61731921
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the DSC2 gene
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy11
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DSC2
    PolyPhen-2
  • Score: 0.433 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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