CNGB3 E755G - 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:

CNGB3 E755G

(CNGB3 Glu755Gly)


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

  • C @ chr8:87588198: 8.3% (890/10758) in EVS
  • C @ chr8:87657313: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 8.3% (890/10758)

Publications
 

Genomes
 

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr8:87588198

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr8:87588198

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr8:87588198

 

 

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr8:87657314

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr8:87657314

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr8:87657314

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr8:87657314

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr8:87657314

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr8:87657314

 

Other external references
 

    dbSNP
  • rs3735972
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CNGB3 gene
    Stargardt Disease, Autosomal Recessive
    Achromatopsia
    Achromatopsia 3
    CNGB3-Related Stargardt Disease 1
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CNGB3
    PolyPhen-2
  • Score: 0.11 (benign)
    Web search results (10 hits -- see all)
  • CNGB3
    ACHM3 region, the identification and cloning of the CNGB3 ... Segregation of CNGB3 mutations for available family members is indicated: +, wild-type ...
    hmg.oxfordjournals.org/cgi/reprint/9/14/2107.pdf
  • Mutations in the CNGB3 gene encoding the {beta}-subunit of ...
    Mutations in the CNGB3 gene encoding the ß-subunit of the cone ... 2264 exchanging glycine for glutamic acid at amino acid position 755 (E755G) ...
    hmg.oxfordjournals.org/cgi/content/full/9/14/2107

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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