CCM2 Q107X - 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:

CCM2 Q107X

(CCM2 Gln107Stop)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the CCM2 gene
    Familial Cerebral Cavernous Malformation
    Familial Cerebral Cavernous Malformation 2
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CCM2
    Web search results (1 hit -- see all)
  • OMIM: 607929
    Further experiments showed that STK25 and CCM2 formed a protein complex. ... CCM2 gene, resulting in the nonsense mutation gln107 to ter (Q107X) ...
    www.genome.jp/dbget-bin/www_bget?omim+607929

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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