CYP2B6 R487C - GET-Evidence

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

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CYP2B6 R487C

(CYP2B6 Arg487Cys)

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 @ chr19:41522715: 8.8% (944/10758) in EVS
  • T @ chr19:46214554: 7.4% (9/122) in GET-Evidence
  • Frequency shown in summary reports: 8.8% (944/10758)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr19:41522715



hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr19:41522715



hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr19:41522715


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr19:41522715


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr19:41522715


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr19:41522715


GS06994 - var-GS06994-1100-36-ASM
het T @ chr19:46214555


GS19704 - var-GS19704-1100-36-ASM
het T @ chr19:46214555


GS20509 - var-GS20509-1100-36-ASM
het T @ chr19:46214555


Other external references

  • rs3211371
  • [mephenytoin]
    The 1459C>T variant is the determining SNP of the *5 allele and a component SNP of the *7 allele. Livers from individuals with the 1459C>T variant had 8 fold lower activity as determined by demethylation of the drug mephenytoin.
  • [bupropion; efavirenz; mephenytoin; nevirapine; nicotine]
    CYP2B6:1459C>T has been reported to reduce CYP2B6 protein expression in human liver and brain. Impact on drug response is somewhat contradictory, see VIP annotation for details.
  • Score: 0.005 (benign)

Other in silico analyses

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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