TEP1 S1447T - 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 S1447T

(TEP1 Ser1447Thr)


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

  • G @ chr14:20850156: 8.0% (865/10758) in EVS
  • G @ chr14:19919995: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 8.0% (865/10758)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr14:20850156

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr14:20850156

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr14:20850156

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr14:20850156

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr14:19919996

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr14:19919996

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr14:19919996

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr14:19919996

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr14:19919996

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr14:19919996

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr14:19919996

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr14:19919996

 

Other external references
 

    dbSNP
  • rs1713457
    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 (3 hits -- see all)
  • Type I- 99%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... 701) SCP 15571623 TEP1 Q99973 S1447T 1447 VAR_018494 CK2 (0.890) Polymorphism ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_99.txt
  • Type I- 95%
    ... 727) Polymorphism (dbSNP:rs2298546) GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 ... (0.739) SCP 15571623 TEP1 Q99973 S1447T 1447 VAR_018494 CK2 (0.890) ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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