GGH A31T - GET-Evidence

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

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(GGH Ala31Thr)

Short summary


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 @ chr8:63951237: 21.0% (2254/10738) in EVS
  • T @ chr8:64113790: 22.1% (27/122) in GET-Evidence
  • Frequency shown in summary reports: 21.0% (2254/10738)


Adjei AA, Mandrekar SJ, Dy GK, Molina JR, Adjei AA, Gandara DR, Ziegler KL, Stella PJ, Rowland KM Jr, Schild SE, Zinner RG. Phase II trial of pemetrexed plus bevacizumab for second-line therapy of patients with advanced non-small-cell lung cancer: NCCTG and SWOG study N0426. J Clin Oncol. 2010 Feb 1;28(4):614-9. Epub 2009 Oct 19. PubMed PMID: 19841321; PubMed Central PMCID: PMC2815996.




hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr8:63951237


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr8:63951237


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr8:63951237





















GS06985 - var-GS06985-1100-36-ASM
het T @ chr8:64113791


GS06994 - var-GS06994-1100-36-ASM
het T @ chr8:64113791


GS07357 - var-GS07357-1100-36-ASM
hom T @ chr8:64113791


GS10851 - var-GS10851-1100-36-ASM
het T @ chr8:64113791


GS18526 - var-GS18526-1100-36-ASM
het T @ chr8:64113791


GS18558 - var-GS18558-1100-36-ASM
het T @ chr8:64113791


GS18940 - var-GS18940-1100-36-ASM
het T @ chr8:64113791


GS18956 - var-GS18956-1100-36-ASM
hom T @ chr8:64113791


GS19240 - var-GS19240-1100-36-ASM
het T @ chr8:64113791


GS19735 - var-GS19735-1100-36-ASM
het T @ chr8:64113791


Other external references

  • rs11545077
  • [Carcinoma, Non-Small-Cell Lung]
    [bevacizumab; pemetrexed]
    Risk or phenotype-associated allele: T. Phenotype: The T allele was marginally associated with increased overall survival (CC vs. TC: 6.5, 14.1 months) given combined pemetrexed/bevacizumab treatment. Study size: from a study using 48 patients with metastatic or stage IIIB nonsquamous non-small-cell lung cancer patients. Significance metric(s): p = 0.06 Type of association: CO, GN
  • Score: 0 (benign)

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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