GSTP1 A114V - GET-Evidence

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

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(GSTP1 Ala114Val)

Short summary

Increased exposure to thiotepa.

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


Insufficiently evaluated pharmacogenetic

(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

  • 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)


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.



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

  • rs1138272
  • [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.
  • [Neoplasms]
    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.
  • 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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