USH2A D644V - 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:

USH2A D644V

(USH2A Asp644Val)


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 @ chr1:216462662: 5.9% (640/10758) in EVS
  • A @ chr1:214529284: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 5.9% (640/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom A @ chr1:216462662

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr1:216462662

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr1:216462662

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr1:216462662

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr1:216462662

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr1:216462662

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr1:214529285

 

Other external references
 

    dbSNP
  • rs1805048
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the USH2A gene
    Retinitis Pigmentosa, Autosomal Recessive
    Usher Syndrome Type 2
    USH2A-Related Retinitis Pigmentosa
    Usher Syndrome Type 2A
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/USH2A
    PolyPhen-2
  • Score: 0.137 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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