TEP1 R541C - 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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TEP1 R541C

(TEP1 Arg541Cys)

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 @ chr14:20864818: 1.6% (169/10758) in EVS
  • A @ chr14:19934657: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 1.6% (169/10758)



GS18502 - var-GS18502-1100-36-ASM
het A @ chr14:19934658


GS18504 - var-GS18504-1100-36-ASM
het A @ chr14:19934658


GS19704 - var-GS19704-1100-36-ASM
het A @ chr14:19934658


Other external references

  • GeneTests records for the TEP1 gene
    Bannayan-Riley-Ruvalcaba Syndrome
    Cowden Syndrome
    Macrocephaly/Autism Syndrome
    PTEN Hamartoma Tumor Syndrome (PHTS)
    VACTERL Association with Hydrocephalus

Other in silico analyses

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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