CCM2 Q107X - GET-Evidence

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

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CCM2 Q107X

(CCM2 Gln107Stop)

Short summary


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


Insufficiently evaluated pathogenic

(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

  • None available.



Other external references

  • GeneTests records for the CCM2 gene
    Familial Cerebral Cavernous Malformation
    Familial Cerebral Cavernous Malformation 2
    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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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