NAT2 G286E - 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 G286E

(NAT2 Gly286Glu)


Short summary

This variant represents the NAT2*7B haplotytype.

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

  • A @ chr8:18258370: 2.3% (247/10654) in EVS
  • A @ chr8:18302649: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 2.3% (247/10654)

Publications
 

Deeken JF, Cormier T, Price DK, Sissung TM, Steinberg SM, Tran K, Liewehr DJ, Dahut WL, Miao X, Figg WD. A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform. Pharmacogenomics J. 2009 Dec 29. [Epub ahead of print] PubMed PMID: 20038957.

 

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr8:18258370

 

 

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr8:18302650

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr8:18302650

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr8:18302650

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr8:18302650

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr8:18302650

 

Other external references
 

    dbSNP
  • rs1799931
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Prostatic Neoplasms]
    [docetaxel; thalidomide]
    Risk or phenotype-associated allele: G Phenotype: The NAT2:rs1799931 G variant was associated with toxicity in response to docetaxel and thalidomide. Study size: 47 Study population/ethnicity: Patients diagnosed with castration-resistant prostate cancer enrolled in a randomized phase II clinical trial comparing docetaxel to docetaxel with thalidomide. Significance metric(s): p = 0.003 Type of association: CO; TOX
    www.ncbi.nlm.nih.gov/pubmed/20038957
  • Important for rapid/slow acetylator status; phenotype may be substrate and concentration dependent.
    www.ncbi.nlm.nih.gov/pubmed/10667461; PubMed ID:10971207; PubMed ID:17434923; PubM

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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