NM_000767.5(CYP2B6):c.516G>T (p.Gln172His) AND methadone response - Dosage

Clinical significance:drug response (Last evaluated: Dec 20, 2017)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000417161.1

Allele description [Variation Report for NM_000767.5(CYP2B6):c.516G>T (p.Gln172His)]

NM_000767.5(CYP2B6):c.516G>T (p.Gln172His)

Gene:
CYP2B6:cytochrome P450 family 2 subfamily B member 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000767.5(CYP2B6):c.516G>T (p.Gln172His)
Other names:
CYP2B6, GLN172HIS (rs3745274)
HGVS:
  • NC_000019.10:g.41006936G>T
  • NG_007929.1:g.20638G>T
  • NM_000767.5:c.516G>T
  • NP_000758.1:p.Gln172His
  • LRG_1267t1:c.516G>T
  • LRG_1267:g.20638G>T
  • LRG_1267p1:p.Gln172His
  • NC_000019.9:g.41512841G>T
  • P20813:p.Gln172His
Protein change:
Q172H; GLN172HIS
Links:
UniProtKB: P20813#VAR_016925; OMIM: 123930.0001; dbSNP: rs3745274
NCBI 1000 Genomes Browser:
rs3745274
Molecular consequence:
  • NM_000767.5:c.516G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
methadone response - Dosage
Identifiers:
MedGen: CN236536

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000494704PharmGKBreviewed by expert panel
drug response
(Dec 20, 2017)
Condition: methadone response - Dosage
Drug reported used for: Heroin Dependence
germlinecuration

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000494704

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

CYP2B6 SNPs are associated with methadone dose required for effective treatment of opioid addiction.

Levran O, Peles E, Hamon S, Randesi M, Adelson M, Kreek MJ.

Addict Biol. 2013 Jul;18(4):709-16. doi: 10.1111/j.1369-1600.2011.00349.x. Epub 2011 Jul 25.

PubMed [citation]
PMID:
21790905
PMCID:
PMC3735354

Impact of genetic polymorphisms in ABCB1, CYP2B6, OPRM1, ANKK1 and DRD2 genes on methadone therapy in Han Chinese patients.

Hung CC, Chiou MH, Huang BH, Hsieh YW, Hsieh TJ, Huang CL, Lane HY.

Pharmacogenomics. 2011 Nov;12(11):1525-33. doi: 10.2217/pgs.11.96. Epub 2011 Sep 8.

PubMed [citation]
PMID:
21902500
See all PubMed Citations (5)

Details of each submission

From PharmGKB, SCV000494704.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (5)

Description

PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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