CEP290 K838E - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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CEP290 K838E

(CEP290 Lys838Glu)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs11104738
  • 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
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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