EYA4 G277S - GET-Evidence

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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:

EYA4 G277S

(EYA4 Gly277Ser)


Short summary

 

Variant evidence
Computational 5

PolyPhen2: Probably damaging 0.993
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 55.27; Class C55
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.17);
PolyPhen=probably_damaging(0.998);
Condel=deleterious(0.976)
Mutation Tasting Prediction: Polymorphism, P value: 0.003481; protein features (might be) affected.

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 @ 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)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr6:133789728

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr6:133789728

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom A @ chr6:133789728

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr6:133789728

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr6:133789728

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr6:133789728

 

hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants
het A @ chr6:133831421

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr6:133789728

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424, hu34D5B9 exome
het A @ chr6:133789728

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom A @ chr6:133789728

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom A @ chr6:133789728

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr6:133789728

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants
het A @ chr6:133831421

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr6:133789728

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr6:133789728

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr6:133789728

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr6:133789728

 

huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909
hom A @ chr6:133789728

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr6:133789728

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr6:133789728

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr6:133789728

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr6:133789728

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom A @ chr6:133789728

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr6:133789728

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr6:133789728

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr6:133831421

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr6:133831421

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr6:133831421

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr6:133831421

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr6:133831421

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr6:133831421

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr6:133831421

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr6:133831421

 

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr6:133831421

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr6:133831421

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr6:133831421

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr6:133831421

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr6:133831421

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr6:133831421

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr6:133831421

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr6:133831421

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr6:133831421

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr6:133831421

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr6:133831421

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr6:133831421

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr6:133831421

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr6:133831421

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr6:133831421

 

GS19704 - var-GS19704-1100-36-ASM
hom A @ chr6:133831421

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr6:133831421

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr6:133831421

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr6:133831421

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr6:133831421

 

Other external references
 

    dbSNP
  • rs9493627
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the EYA4 gene
    Dilated Cardiomyopathy
    Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant
    DFNA10 Nonsyndromic Hearing Loss and Deafness
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EYA4
    PolyPhen-2
  • 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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