CCDC116 A436T - GET-Evidence

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

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CCDC116 A436T

(CCDC116 Ala436Thr)

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

  • A @ chr22:21990823: 1.5% (157/10758) in EVS
  • A @ chr22:20320822: 2.5% (3/122) in GET-Evidence
  • Frequency shown in summary reports: 1.5% (157/10758)



hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr22:21990823


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr22:21990823


GS18558 - var-GS18558-1100-36-ASM
het A @ chr22:20320823


GS18940 - var-GS18940-1100-36-ASM
hom A @ chr22:20320823


Other external references

  • rs11705259
  • Score: 0.023 (benign)

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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