NAT2 I114T - 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:

NAT2 I114T

(NAT2 Ile114Thr)


Short summary

 

Variant evidence
Computational 2

SIFT: Affect protein function
GVGD: GV 0.00; GD 89.28; Class C65
Variant Effect Predictor (Ensembl ): SIFT=tolerated(0.05);
PolyPhen=benign(0.064);
Condel=deleterious(0.814)
Mutation Tasting prediction: Polymorphism p value: 0.006365; Protein features (might be) affected.

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

  • C @ chr8:18257854: 39.8% (4283/10758) in EVS
  • C @ chr8:18302133: 31.2% (40/128) in GET-Evidence
  • Frequency shown in summary reports: 39.8% (4283/10758)

Publications
 

Olivera M, Martínez C, Gervasini G, Carrillo JA, Ramos S, Benítez J, García-Martin E, Agúndez JA. Effect of common NAT2 variant alleles in the acetylation of the major clonazepam metabolite, 7-aminoclonazepam. Drug Metab Lett. 2007 Jan;1(1):3-5. PubMed PMID: 19356010.

 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr8:18257854

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr8:18257854

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr8:18257854

 

 

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr8:18257854

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr8:18257854

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr8:18257854

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr8:18257854

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr8:18257854

 

 

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr8:18302134

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr8:18302134

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr8:18302134

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr8:18302134

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr8:18302134

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr8:18302134

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr8:18302134

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr8:18302134

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr8:18302134

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr8:18302134

 

GS19648 - var-GS19648-1100-36-ASM
hom C @ chr8:18302134

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr8:18302134

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr8:18302134

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr8:18302134

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr8:18302134

 

Other external references
 

    dbSNP
  • rs1801280
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [clonazepam]
    in vitro study; PK: 20-fold reduction in Vmax vs wild type
    www.ncbi.nlm.nih.gov/pubmed/19356010
  • [Urinary Bladder Neoplasms]
    Homozygotes for the C allele are thought to be slowest acetylator phenotype (altered rates of metabolism of arylamines) of the NAT2 phenotypes, though results from one study indicated requirement for an additional SNP C481T;this is the most strongly associated of the NAT2 polymorphisms with risk of bladder cancer and with adverse drug reactions.
    www.ncbi.nlm.nih.gov/pubmed/10667461; PubMed ID:10971207; PubMed ID:12351146; PubM

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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