SGCG R116H - 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:

SGCG R116H

(SGCG Arg116His)


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

  • A @ chr13:23824818: 10.3% (1112/10758) in EVS
  • A @ chr13:22722817: 5.6% (7/126) in GET-Evidence
  • Frequency shown in summary reports: 10.3% (1112/10758)

Publications
 

Genomes
 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr13:23824818

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr13:23824818

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr13:23824818

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr13:22722818

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr13:22722818

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr13:22722818

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr13:22722818

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr13:22722818

 

Other external references
 

    dbSNP
  • rs17314986
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the SGCG gene
    Limb-Girdle Muscular Dystrophies, Autosomal Recessive
    Sarcoglycanopathies
    Gamma-Sarcoglycanopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SGCG
    PolyPhen-2
  • Score: 0.995 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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