CYP2B6 K262R - 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:

CYP2B6 K262R

(CYP2B6 Lys262Arg)


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

  • G @ chr19:41515263: 4.3% (459/10596) in EVS
  • G @ chr19:46207102: 29.8% (34/114) in GET-Evidence
  • Frequency shown in summary reports: 4.3% (459/10596)

Publications
 

Rocha V, Porcher R, Fernandes JF, Filion A, Bittencourt H, Silva W Jr, Vilela G, Zanette DL, Ferry C, Larghero J, Devergie A, Ribaud P, Skvortsova Y, Tamouza R, Gluckman E, Socie G, Zago MA. Association of drug metabolism gene polymorphisms with toxicities, graft-versus-host disease and survival after HLA-identical sibling hematopoietic stem cell transplantation for patients with leukemia. Leukemia. 2009 Mar;23(3):545-56. Epub 2008 Nov 13. PubMed PMID: 19005482.

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr19:41515263

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr19:41515263

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr19:41515263

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr19:41515263

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom G @ chr19:41515263

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr19:41515263

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr19:41515263

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom G @ chr19:41515263

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom G @ chr19:41515263

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr19:41515263

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het G @ chr19:41515263

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr19:41515263

 

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr19:41515263

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr19:41515263

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr19:41515263

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr19:41515263

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr19:41515263

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr19:41515263

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr19:41515263

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr19:41515263

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr19:41515263

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr19:41515263

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr19:46207103

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr19:46207103

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr19:46207103

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr19:46207103

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr19:46207103

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr19:46207103

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr19:46207103

 

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr19:46207103

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr19:46207103

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr19:46207103

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr19:46207103

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr19:46207103

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chr19:46207103

 

GS19834 - var-GS19834-1100-36-ASM
hom G @ chr19:46207103

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr19:46207103

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr19:46207103

 

Other external references
 

    dbSNP
  • rs28399497
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs2279343
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [bupropion; nicotine]
    The CYP2B6*4 allele has been associated with increased activity against both nicotine and bupropion substrates.
    www.ncbi.nlm.nih.gov/pubmed/14515060; PubMed ID:17015050; PubMed ID:18695978
  • [bupropion]
    This variant is found alone as the CYP2B6*4 allele and also in combination as part of several other haplotypes. It has higher expression levels than other variants but its phenotype with respect to drugs is unclear. See VIP annotation for more details.
    www.pharmgkb.org/search/annotatedGene/cyp2b6
  • [cyclophosphamide]
    Risk or phenotype-associated allele: G. Phenotype: CYP2B6*4 genotype in the transplant recipient was associated with oral mucositis. Study size:107 . Study population/ethnicity: Donors and patients with leukemia after HLA-identical hematopoietic stem cell transplantation, France. Significance metric(s): p = 0.0067. Type of association: TOX
    www.ncbi.nlm.nih.gov/pubmed/19005482
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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