TEP1 H2562R - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

TEP1 H2562R

(TEP1 His2562Arg)


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

  • C @ chr14:20837033: 4.8% (521/10758) in EVS
  • C @ chr14:19906872: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 4.8% (521/10758)

Publications
 

Genomes
 

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr14:20837033

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr14:19906873

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr14:19906873

 

Other external references
 

    dbSNP
  • rs2104978
    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

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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