UGT2B15 Y85D - GET-Evidence

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

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Curation:
Currentness:

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UGT2B15 Y85D

(UGT2B15 Tyr85Asp)


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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

  • C @ chr4:69536084: 50.8% (5458/10746) in EVS
  • C @ chr4:69218678: 50.0% (40/80) in GET-Evidence
  • Frequency shown in summary reports: 50.8% (5458/10746)

Publications
 

Chung JY, Cho JY, Yu KS, Kim JR, Jung HR, Lim KS, Jang IJ, Shin SG. Effect of the UGT2B15 genotype on the pharmacokinetics, pharmacodynamics, and drug interactions of intravenous lorazepam in healthy volunteers. Clin Pharmacol Ther. 2005 Jun;77(6):486-94. PubMed PMID: 15961980.

 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr4:69536084

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom C @ chr4:69536084

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom C @ chr4:69536084

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424, hu34D5B9 exome
hom C @ chr4:69536084

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr4:69536084

 

hu3A8D13 - PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16), CGI sample GS000003289
het C @ chr4:69536084

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr4:69536084

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom C @ chr4:69536084

 

huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909
hom C @ chr4:69536084

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr4:69536084

 

Added in this revision:

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr4:69536084

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr4:69536084

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr4:69218679

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr4:69218679

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr4:69218679

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr4:69218679

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr4:69218679

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr4:69218679

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr4:69218679

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr4:69218679

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chr4:69218679

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr4:69218679

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr4:69218679

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chr4:69218679

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr4:69218679

 

GS19701 - var-GS19701-1100-36-ASM
hom C @ chr4:69218679

 

Other external references
 

    dbSNP
  • rs1902023
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [lorazepam]
    N=24 Korean; PK: UGT2B15*2/*2 group vs UGT215*1/*1 showed 0.58 lower systemic clearance of lorazepam; p less than 0.001
    www.ncbi.nlm.nih.gov/pubmed/15961980

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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