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 November 29, 2012 at 4:43am by Genome Importing Robot.

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 @ 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)


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PubMed PMID: 19005482



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr19:41512841


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr19:41512841


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr19:41512841


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr19:41512841



hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr19:41512841


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr19:41512841



hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom T @ chr19:41512841



Added in this revision:

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom T @ chr19:41512841


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr19:41512841


hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr19:41512841


hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr19:41512841




hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr19:41512841


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr19:41512841


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr19:41512841


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr19:41512841


huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr19:41512841


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr19:41512841


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


GS06985 - var-GS06985-1100-36-ASM
het T @ chr19:46204681


GS06994 - var-GS06994-1100-36-ASM
het T @ chr19:46204681


GS12004 - var-GS12004-1100-36-ASM
het T @ chr19:46204681


GS18502 - var-GS18502-1100-36-ASM
het T @ chr19:46204681


GS18508 - var-GS18508-1100-36-ASM
het T @ chr19:46204681


GS18537 - var-GS18537-1100-36-ASM
het T @ chr19:46204681


GS18558 - var-GS18558-1100-36-ASM
hom T @ chr19:46204681


GS19017 - var-GS19017-1100-36-ASM
hom T @ chr19:46204681


GS19026 - var-GS19026-1100-36-ASM
het T @ chr19:46204681


GS19129 - var-GS19129-1100-36-ASM
het T @ chr19:46204681


GS19238 - var-GS19238-1100-36-ASM
het T @ chr19:46204681


GS19239 - var-GS19239-1100-36-ASM
het T @ chr19:46204681


GS19649 - var-GS19649-1100-36-ASM
het T @ chr19:46204681


GS19700 - var-GS19700-1100-36-ASM
het T @ chr19:46204681


GS19701 - var-GS19701-1100-36-ASM
het T @ chr19:46204681


GS19703 - var-GS19703-1100-36-ASM
het T @ chr19:46204681


GS19735 - var-GS19735-1100-36-ASM
hom T @ chr19:46204681


GS19834 - var-GS19834-1100-36-ASM
hom T @ chr19:46204681


GS20509 - var-GS20509-1100-36-ASM
het T @ chr19:46204681


GS21767 - var-GS21767-1100-36-ASM
het T @ chr19:46204681


Other external references

  • rs3745274
  • [HIV Infections]
    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.; 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.
  • [Drug Toxicity]
    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
  • 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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