NM_000767.5(CYP2B6):c.823-197T>C AND efavirenz response - Metabolism/PK

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:
RCV000417127.1

Allele description [Variation Report for NM_000767.5(CYP2B6):c.823-197T>C]

NM_000767.5(CYP2B6):c.823-197T>C

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.823-197T>C
HGVS:
  • NC_000019.10:g.41009797T>C
  • NG_007929.1:g.23499T>C
  • NM_000767.5:c.823-197T>C
  • LRG_1267t1:c.823-197T>C
  • LRG_1267:g.23499T>C
  • NC_000019.9:g.41515702T>C
Links:
dbSNP: rs2279345
NCBI 1000 Genomes Browser:
rs2279345
Molecular consequence:
  • NM_000767.5:c.823-197T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
efavirenz response - Metabolism/PK
Identifiers:
MedGen: CN236550

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000494697PharmGKBreviewed by expert panel
drug response
(Dec 20, 2017)
Condition: efavirenz response - Metabolism/PK
Drug reported used for: HIV
germlinecuration

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

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000494697

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Pharmacogenetic markers of CYP2B6 associated with efavirenz plasma concentrations in HIV-1 infected Thai adults.

Sukasem C, Cressey TR, Prapaithong P, Tawon Y, Pasomsub E, Srichunrusami C, Jantararoungtong T, Lallement M, Chantratita W.

Br J Clin Pharmacol. 2012 Dec;74(6):1005-12. doi: 10.1111/j.1365-2125.2012.04288.x.

PubMed [citation]
PMID:
22471906
PMCID:
PMC3522814

Low level of efavirenz in HIV-1-infected Thai adults is associated with the CYP2B6 polymorphism.

Sukasem C, Manosuthi W, Koomdee N, Santon S, Jantararoungtong T, Prommas S, Chamnanphol M, Puangpetch A, Sungkanuparph S.

Infection. 2014 Jun;42(3):469-74. doi: 10.1007/s15010-013-0560-6. Epub 2013 Nov 30.

PubMed [citation]
PMID:
24293076
See all PubMed Citations (5)

Details of each submission

From PharmGKB, SCV000494697.2

#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

Support Center