WFS1 R456H - GET-Evidence

Curation:
Currentness:

WFS1 R456H

(WFS1 Arg456His)


Short summary

Reported benign in ClinVar

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

Impact

Low clinical importance, Uncertain benign

(The "low clinical importance, uncertain" 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 @ chr4:6302889: 4.5% (489/10758) in EVS
  • A @ chr4:6353789: 3.2% (4/124) in GET-Evidence
  • Frequency shown in summary reports: 4.5% (489/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr4:6302889

 

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr4:6353790

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr4:6353790

 

Other external references
 

    dbSNP
  • rs1801208
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the WFS1 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant
    DFNA 6/14/38 Nonsyndromic Hearing Loss and Deafness
    DFNA6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Los
    WFS1-Related Disorders
    Wolfram Syndrome
    Wolfram Syndrome-Like Disease
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WFS1
    PolyPhen-2
  • Score: 0.994 (probably damaging)
    Web search results (33 hits -- see all)
  • Missense variations of the gene responsible for Wolfram ...
    We studied the WFS1 gene in a Japanese population to assess its possible role in common type 1 diabetes. ... the R456H-positive patients compared to the R456H-negative patients. ...
    www.ncbi.nlm.nih.gov/pubmed/10679252
  • Association Study of the Effect of WFS1 Polymorphisms on Risk ...
    Mutations of WFS1 gene cause Wolfram syndrome, which is a rare ... rs12511742, rs1801208 (R456H) and rs734312 (H611R) were genotyped in a total of 536 ...
    www.med.kobe-u.ac.jp/journal/contents/54/E192.pdf
  • CiNii - Association Study of the Effect of WFS1 Polymorphisms ...
    Association Study of the Effect of WFS1 Polymorphisms on Risk of Type 2 Diabetes in ... polymorphisms, rs6446482,rs12511742, rs1801208 (R456H) and rs734312 ...
    ci.nii.ac.jp/naid/110006884894
  • Rouleau, G (Guy)
    Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behavior. ... Genetic variation at WFS1 (H611R, R456H, and I333V) was investigated in 111 ...
    lib.bioinfo.pl/auid:21489
  • WFS1
    WFS1. DFNA6/14/38. K634T. Japanese (1) Komatsu 2002. T699M. 2266C>T. exon 8 ... R456H. 1367G>A* exon 8. Japanese (55) Awata 2000 *Mutation was found at ...
    hearing.harvard.edu/genepages/wfs1dream.htm
  • Supplementary Table 2
    WFS1. R456H Positive> Positive. Exposed. Myristoylation. site. 429-451. transmembrane No signature. motif. 1.125 ... 1.8. Damaging. Sheet. WFS1. V -> M Nonpolar> Nonpolar. Buried. No pattern ...
    www.mcponline.org/cgi/data/M500024-MCP200/DC1/2
  • Phenotype-Genotype Correlations in a Series of Wolfram ...
    Polymorphisms in the WFS1 gene. Exon/intron. Nucleotide change. Amino acid change ... V395V. T 0.641/C 0.359. 8. 1367G>A. R456H. G 0.984/A 0.016. 8. 1500T>C. N500N ...
    care.diabetesjournals.org/content/27/8/2003/T3.expansion?...
  • Association Studies of Genetic Variation in the WFS1 Gene and ...
    Association Studies of Genetic Variation in the WFS1 Gene and Type 2 Diabetes in U.K. ... R456H. G1367A. 3/58 (5.2) 8. N500N. T1500C. 6/58 (10.3) 8. H611R. A1832G. 23 ...
    diabetes.diabetesjournals.org/content/51/4/1287/T2.expansion
  • CSA - Discovery Guides
    We screened the entire WFS1 ORF in a panel of 100 completed suicides, 60 blood ... that WFS1 carrier status is not a significant contributor to suicide in the ...
    www.csa.com/discoveryguides/bipolar/abstracts-f.php
  • Supplementary Table 1:
    WFS1. G > A. R456H. R. Minton, J. A. et al . Diabetes. 51,1287–1290 (2002) ... WFS1. A684V. WFS1. E737K. WFS1. G576S. WFS1. G674R. WFS1. I333V. WFS1. I720V. WFS1. R708C. WFS1. V871M ...
    www.mcponline.org/cgi/data/M500024-MCP200/DC1/1

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in