MYO3A A833S - 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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Curation:
Currentness:

MYO3A A833S

(MYO3A Ala833Ser)


Short summary

 

Variant evidence
Computational -
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

  • T @ chr10:26434455: 6.6% (713/10758) in EVS
  • T @ chr10:26474460: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 6.6% (713/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr10:26434455

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr10:26434455

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom T @ chr10:26434455

 

 

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr10:26434455

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr10:26434455

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr10:26434455

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr10:26474461

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr10:26474461

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr10:26474461

 

Other external references
 

    dbSNP
  • rs33947968
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the MYO3A gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    DFNB30 Nonsyndromic Hearing Loss and Deafness
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYO3A
    PolyPhen-2
  • Score: 0.997 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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