DFNB59 G292R - GET-Evidence

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

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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 -


Insufficiently evaluated benign

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

Inheritance pattern


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)


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.


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




Other external references

  • rs79399438
  • GeneTests records for the DFNB59 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    DFNB59 Nonsyndromic Hearing Loss and Deafness
  • 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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