CYP2B6 Q172H - GET-Evidence

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

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CYP2B6 Q172H

(CYP2B6 Gln172His)


You are viewing an old version of this page that was saved on February 27, 2010 at 9:24pm by Genome Importing Robot.

Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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 @ chr19:41512841: 29.2% (3138/10758) in EVS
  • T @ chr19:46204680: 31.2% (40/128) in GET-Evidence
  • Frequency shown in summary reports: 29.2% (3138/10758)

Publications
 

Genomes
 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr19:41512841

 

NA07022

 

NA19129

 

snp-18

 

snp-26

 

Added in this revision:

snp-29

 

Other external references
 

    dbSNP
  • rs3745274
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [HIV Infections]
    [efavirenz]
    This variant in exon 4 together with K262R in exon 5 are the determining SNP of the *6 allele. *6 occurs with high frequency across different populations. A study in human liver microsomes found the CYP2B6*6 allele was significantly associated with a pronounced decrease in CYP2B6 expression and activity, as well as a low rate of efavirenz 8-hydroxylation. In a study in HIV-1 patients treated with efavirenz, the mean plasma efavirenz concentration of patients with CYP2B6 *6/*6 was significantly higher than that of patients with genotypes *6 heterozygote or without alleles *6. In vitro expression studies found the 516G>T variant as the causal sequence variation for severely decreased expression and function associated with CYP2B6*6.
    www.ncbi.nlm.nih.gov/pubmed/15194512; PubMed ID:17559344; PubMed ID:17638512; PubM
  • [efavirenz; nevirapine]
    CYP2B6:516G>T is part of the CYP2B6 haplotype. It has been associated with lower activity and response to NNRTIs. See VIP annotation for more details.
    www.pharmgkb.org/search/annotatedGene/cyp2b6
  • [Drug Toxicity]
    [cyclophosphamide]
    Risk or phenotype-associated allele: T. Phenotype: CYP2B6*6 genotype of the transplant donor was associated with toxicity and venoocclusive disease of the liver in the recipient. Study size:107 . Study population/ethnicity: Donors and patients with leukemia after HLA-identical hematopoietic stem cell transplantation, France. Significance metric(s): p = 0.03. Type of association: TOX
    www.ncbi.nlm.nih.gov/pubmed/19005482
    PolyPhen-2
  • Score: 0.009 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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