RYR2 A1136V - 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:

RYR2 A1136V

(RYR2 Ala1136Val)


Short summary

 

Variant evidence
Computational 1

PolyPhen-2 predicts RYR2-A1136V to be BENIGN with a score of 0.000 (sensitivity: 1.00; specificity: 0.00).

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 @ chr1:237730059: 0.9% (91/10358) in EVS
  • T @ chr1:235796681: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (91/10358)

Publications
 

Genomes
 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr1:235796682

 

Other external references
 

    dbSNP
  • rs72549415
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the RYR2 gene
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos
    Catecholaminergic Polymorphic Ventricular Tachycardia
    RYR2-Related Catecholaminergic Polymorphic Ventricular Tachycard
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RYR2

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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