GSTP1 A114V - GET-Evidence

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

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Curation:
Currentness:

GSTP1 A114V

(GSTP1 Ala114Val)


Short summary

Increased exposure to thiotepa.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr11:67353579: 6.2% (636/10292) in EVS
  • T @ chr11:67110154: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 6.2% (636/10292)

Publications
 

Ekhart C, Doodeman VD, Rodenhuis S, Smits PH, Beijnen JH, Huitema AD. Polymorphisms of drug-metabolizing enzymes (GST, CYP2B6 and CYP3A) affect the pharmacokinetics of thiotepa and tepa. Br J Clin Pharmacol. 2009 Jan;67(1):50-60. Epub 2008 Nov 17. PubMed PMID: 19076156; PubMed Central PMCID: PMC2668084.

 

Genomes
 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr11:67353579

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr11:67353579

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr11:67353579

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr11:67110155

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr11:67110155

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr11:67110155

 

Other external references
 

    dbSNP
  • rs1138272
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [cisplatin; cyclophosphamide; doxorubicin; etoposide; oxaliplatin; pyrimethamine]
    This variant is less well studied and its pharmacogenetic significance is unclear. The variant allele is almost always found in linkage disequilibrium with GSTP1 I105V SNP.
    www.pharmgkb.org/search/annotatedGene/gstp1/
  • [Neoplasms]
    [thiotepa]
    A study of 124 White patients, which received a high-dose regimen consisting of cyclophosphamide, thiotepa and carboplatin as intravenous infusions, concludes patients homozygous for the GSTP1 C341T allele may have enhanced exposure to thiotepa and tepa.
    www.ncbi.nlm.nih.gov/pubmed/19076156
    PolyPhen-2
  • Score: 0.018 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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