TEP1 T137M - 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:

TEP1 T137M

(TEP1 Thr137Met)


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

  • A @ chr14:20876189: 4.4% (470/10758) in EVS
  • A @ chr14:19946028: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 4.4% (470/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr14:20876189

 

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr14:19946029

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr14:19946029

 

Other external references
 

    dbSNP
  • rs10083536
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the TEP1 gene
    Bannayan-Riley-Ruvalcaba Syndrome
    Cowden Syndrome
    Macrocephaly/Autism Syndrome
    PTEN Hamartoma Tumor Syndrome (PHTS)
    VACTERL Association with Hydrocephalus
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TEP1
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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