CC2D2A E376A - 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:

CC2D2A E376A

(CC2D2A Glu376Ala)


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 @ chr4:15518357: 1.9% (182/9734) in EVS
  • C @ chr4:15127454: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 1.9% (182/9734)

Publications
 

Genomes
 

 

 

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr4:15127455

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr4:15127455

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr4:15127455

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr4:15127455

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr4:15127455

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr4:15127455

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr4:15127455

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr4:15127455

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr4:15127455

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr4:15127455

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr4:15127455

 

Other external references
 

    dbSNP
  • rs16892095
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CC2D2A gene
    Joubert Syndrome
    Meckel Syndrome
    CC2D2A-Related Joubert Syndrome
    CC2D2A-Related Meckel Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CC2D2A
    PolyPhen-2
  • Score: 0.47 (possibly damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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