CEP290 K838E - 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:

CEP290 K838E

(CEP290 Lys838Glu)


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 @ chr12:88500847: 3.2% (302/9334) in EVS
  • C @ chr12:87024977: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 3.2% (302/9334)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr12:88500847

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr12:88500847

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom C @ chr12:88500847

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr12:88500847

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr12:88500847

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr12:87024978

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chr12:87024978

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr12:87024978

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr12:87024978

 

Other external references
 

    dbSNP
  • rs11104738
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CEP290 gene
    Bardet-Biedl Syndrome
    CEP290-Related Bardet-Biedl Syndrome
    CEP290-Related Joubert Syndrome
    CEP290-Related Leber Congenital Amaurosis
    CEP290-Related Meckel Syndrome
    Joubert Syndrome
    Leber Congenital Amaurosis
    Meckel Syndrome
    Senior-Loken Syndrome
    Senior-Loken Syndrome 6
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CEP290
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (2 hits -- see all)
  • doi:10.1086/519026
    Mutations in the CEP290 gene were recently identiļ¬ed in families with ... Here, we performed comprehensive CEP290-mutation analysis on two nonoverlapping ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 D390N ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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