DFNB59 G292R - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

DFNB59 G292R

(DFNB59 Gly292Arg)


Short summary

This variant was seen homozygously in an Iranian individual with non-syndromic hearing loss. Its frequency in 1000 genomes data makes p. benign.

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

Impact

Insufficiently evaluated benign

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr2:179325816: 2.5% (237/9634) in EVS
  • A @ chr2:179034061: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 2.5% (237/9634)

Publications
 

Hashemzadeh Chaleshtori M, Simpson MA, Farrokhi E, Dolati M, Hoghooghi Rad L, Amani Geshnigani S, Crosby AH. Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. Clin Genet. 2007 Sep;72(3):261-3. PubMed PMID: 17718865.

This variant was seen homozygously in an Iranian individual with non-syndromic hearing loss. It was also seen in 1/100 control chromosomes.

Genomes
 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr2:179325816

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr2:179034062

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr2:179034062

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr2:179034062

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr2:179034062

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr2:179034062

 

NA12878

 

Other external references
 

    dbSNP
  • rs79399438
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the DFNB59 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    DFNB59 Nonsyndromic Hearing Loss and Deafness
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DFNB59
    PolyPhen-2
  • Score: 0.293 (possibly damaging)
    Web search results (1 hit -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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