GGH A31T - 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.

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Curation:
Currentness:

GGH A31T

(GGH Ala31Thr)


Short summary

 

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

unknown

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)

Publications
 

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.

 

Genomes
 

 

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
 

    dbSNP
  • rs11545077
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [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
    www.ncbi.nlm.nih.gov/pubmed/19841321
    PolyPhen-2
  • 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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