MYH6 G56R - 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:

MYH6 G56R

(MYH6 Gly56Arg)


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 @ chr14:23876267: 8.3% (891/10758) in EVS
  • T @ chr14:22946106: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 8.3% (891/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr14:23876267

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr14:23876267

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr14:23876267

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr14:23876267

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr14:23876267

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr14:23876267

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr14:22946107

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr14:22946107

 

Other external references
 

    dbSNP
  • rs28711516
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the MYH6 gene
    Familial Hypertrophic Cardiomyopathy
    MYH6-Related Familial Hypertrophic Cardiomyopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH6
    Web search results (3 hits -- see all)
  • SNPs Identified in MYH6
    G56R. G/A. WIPGA_03_247. 61. chr14:21866568. 5' UTR. view. G/A. WIPGA_03_248. chr14:21866614 ... Candidate Gene List > MYH6 Main Page > SNPs Identified in MYH6 ...
    cardiogenomics.med.harvard.edu/.../MYH6_validated_SNPs.html
  • {alpha}-Myosin Heavy Chain: A Sarcomeric Gene Associated With ...
    All MYH6 mutations were distributed in highly conserved residues, were predicted ... role of MYH6 mutations in mammals.7 In humans, an MYH6 mutation has ...
    circ.ahajournals.org/cgi/content/full/112/1/54

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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