MYO3A R319H - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

MYO3A R319H

(MYO3A Arg319His)


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

  • A @ chr10:26355906: 48.8% (5245/10758) in EVS
  • A @ chr10:26395911: 43.0% (55/128) in GET-Evidence
  • Frequency shown in summary reports: 48.8% (5245/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom A @ chr10:26355906

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr10:26355906

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr10:26355906

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom A @ chr10:26355906

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom A @ chr10:26355906

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr10:26355906

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom A @ chr10:26355906

 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr10:26355906

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr10:26355906

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr10:26355906

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom A @ chr10:26355906

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr10:26355906

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom A @ chr10:26355906

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr10:26355906

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom A @ chr10:26355906

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom A @ chr10:26355906

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom A @ chr10:26355906

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr10:26355906

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr10:26355906

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr10:26355906

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr10:26355906

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom A @ chr10:26355906

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chr10:26355906

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr10:26355906

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr10:26395912

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr10:26395912

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr10:26395912

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr10:26395912

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr10:26395912

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr10:26395912

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr10:26395912

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr10:26395912

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chr10:26395912

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr10:26395912

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr10:26395912

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr10:26395912

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr10:26395912

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr10:26395912

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr10:26395912

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr10:26395912

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr10:26395912

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr10:26395912

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr10:26395912

 

GS19700 - var-GS19700-1100-36-ASM
hom A @ chr10:26395912

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr10:26395912

 

GS19735 - var-GS19735-1100-36-ASM
hom A @ chr10:26395912

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr10:26395912

 

GS20502 - var-GS20502-1100-36-ASM
hom A @ chr10:26395912

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr10:26395912

 

Other external references
 

    dbSNP
  • rs3824700
    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 (benign)
    Web search results (2 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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