EYA4 G277S - 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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EYA4 G277S

(EYA4 Gly277Ser)

You are viewing an old version of this page that was saved on December 27, 2009 at 3:55pm by Genome Importing Robot.

Added in this revision:

Short summary


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


Insufficiently evaluated not reviewed

(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 @ chr6:133789728: 38.6% (4149/10758) in EVS
  • A @ chr6:133831420: 41.4% (53/128) in GET-Evidence
  • Frequency shown in summary reports: 38.6% (4149/10758)



Other external references

  • GeneTests records for the EYA4 gene
    Dilated Cardiomyopathy
    Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant
    DFNA10 Nonsyndromic Hearing Loss and Deafness
  • Score: 0.697 (possibly damaging)
    Web search results (0 hits -- see all)

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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