PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.
ClinVar Genomic variation as it relates to human health
NM_000767.5(CYP2B6):c.516G>T (p.Gln172His)
Germline
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000767.5(CYP2B6):c.516G>T (p.Gln172His)
Variation ID: 29671 Accession: VCV000029671.6
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 19q13.2 19: 41006936 (GRCh38) [ NCBI UCSC ] 19: 41512841 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Mar 23, 2014 Oct 8, 2024 Mar 24, 2021 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000767.5:c.516G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000758.1:p.Gln172His missense NM_000767.4:c.516G>T NC_000019.10:g.41006936G>T NC_000019.9:g.41512841G>T NG_007929.1:g.20638G>T LRG_1267:g.20638G>T LRG_1267t1:c.516G>T LRG_1267p1:p.Gln172His P20813:p.Gln172His - Protein change
- Q172H
- Other names
-
CYP2B6, GLN172HIS (rs3745274)
- Canonical SPDI
- NC_000019.10:41006935:G:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
0.31569 (T)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
The Genome Aggregation Database (gnomAD) 0.28231
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.29040
Trans-Omics for Precision Medicine (TOPMed) 0.29499
1000 Genomes Project 0.31569
1000 Genomes Project 30x 0.31933
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| CYP2B6 | - | - |
GRCh38 GRCh37 |
61 | 72 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| drug response (1) |
no assertion criteria provided
|
May 18, 2015 | RCV000022520.35 | |
| drug response (1) |
reviewed by expert panel
|
Mar 24, 2021 | RCV001787330.10 | |
|
efavirenz response - Toxicity
|
drug response (1) |
reviewed by expert panel
|
Mar 24, 2021 | RCV001787331.10 |
|
nevirapine response - Metabolism/PK
|
drug response (1) |
reviewed by expert panel
|
Mar 24, 2021 | RCV001787332.11 |
|
CYP2B6-related disorder
|
Likely benign (1) |
no assertion criteria provided
|
Jul 22, 2021 | RCV003974851.2 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
drug response
Drug-variant association: Metabolism/PK
(Mar 24, 2021)
|
reviewed by expert panel
Method: curation
|
efavirenz response - Metabolism/PK
Drug used for
HIV Infections
Affected status: yes
Allele origin:
germline
|
PharmGKB
Accession: SCV000494701.3
First in ClinVar: Feb 19, 2017 Last updated: Dec 12, 2021
Comment:
Drug is not necessarily used to treat response condition
|
Comment:
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more)
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
|
|
|
drug response
Drug-variant association: Toxicity
(Mar 24, 2021)
|
reviewed by expert panel
Method: curation
|
efavirenz response - Toxicity
Drug used for
HIV Infections
Affected status: yes
Allele origin:
germline
|
PharmGKB
Accession: SCV000494702.3
First in ClinVar: Feb 19, 2017 Last updated: Dec 12, 2021
Comment:
Drug is not necessarily used to treat response condition
|
Comment:
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more)
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
|
|
|
drug response
Drug-variant association: Metabolism/PK
(Mar 24, 2021)
|
reviewed by expert panel
Method: curation
|
nevirapine response - Metabolism/PK
Drug used for
HIV Infections
Affected status: yes
Allele origin:
germline
|
PharmGKB
Accession: SCV000494703.3
First in ClinVar: Feb 19, 2017 Last updated: Dec 12, 2021
Comment:
Drug is not necessarily used to treat response condition
|
Comment:
PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in … (more)
PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications. (less)
|
|
|
drug response
(May 18, 2015)
|
no assertion criteria provided
Method: literature only
|
EFAVIRENZ, POOR METABOLISM OF
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000043809.2
First in ClinVar: Apr 04, 2013 Last updated: Mar 23, 2014 |
Comment on evidence:
Haas et al. (2004) studied 157 American HIV-infected patients and found that homozygosity for a nonsynonymous SNP in CYP2B6, 516G-T (rs3745274), which results in a … (more)
Haas et al. (2004) studied 157 American HIV-infected patients and found that homozygosity for a nonsynonymous SNP in CYP2B6, 516G-T (rs3745274), which results in a gln172-to-his (Q172H) substitution, was present in 20% of African Americans compared with only 3% of European Americans and was associated with higher efavirenz exposure in plasma (p less than 0.0001) (see 614546). The median 24-hour area under the curve of efavirenz was about 3-fold higher in 516T homozygotes than in 516G homozygotes, and was intermediate in 516GT heterozygotes, regardless of ethnicity, suggesting a gene dosage effect. Among all patients, CNS side effects at week 1 were associated with 516T (p = 0.036). Higher efavirenz concentrations had no effect on HIV viral load. Carr et al. (2010) determined plasma efavirenz concentrations in 219 HIV-positive Chilean patients and identified 11 CYP2B6 SNPs that were significantly associated with drug concentrations. Of these, only 516G-T (p = 5.6 x 10(-20)) was exonic. However, a composite model in which 516G-T was combined 2 other SNPs was more strongly associated with efavirenz plasma concentrations than 516G-T alone. Elens et al. (2010) studied 50 HIV-infected patients from Belgium and confirmed that minimum trough plasma level concentrations of efavirenz were associated with CYP2B6 allelic status. They also found that cell-associated concentrations of efavirenz were associated with CYP2B6 516G-T. Elens et al. (2010) concluded that knowledge of CYP2B6 genetic status should be taken into account for efavirenz treatment. (less)
|
|
|
Likely benign
(Jul 22, 2021)
|
no assertion criteria provided
Method: clinical testing
|
CYP2B6-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004798950.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
|
Comment:
Comment:
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.
Comment:
PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications.
Comment:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.
Comment:
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.
Comment:
PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications.
Comment:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Influence of selected polymorphisms in disposition genes on lumefantrine pharmacokinetics when coadministered with efavirenz. | Adegbola AJ | Pharmacogenetics and genomics | 2020 | PMID: 32209837 |
| Pharmacogenetic interactions between antiretroviral drugs and vaginally administered hormonal contraceptives. | Haas DW | Pharmacogenetics and genomics | 2020 | PMID: 32106141 |
| Influence of CYP2B6 activity score on the pharmacokinetics and safety of single dose efavirenz in healthy volunteers. | Zubiaur P | The pharmacogenomics journal | 2020 | PMID: 31628422 |
| Pharmacokinetics of efavirenz in patients on antituberculosis treatment in high human immunodeficiency virus and tuberculosis burden countries: A systematic review. | Atwine D | British journal of clinical pharmacology | 2018 | PMID: 29624706 |
| Genetics of Nevirapine Metabolic Pathways at Steady State in HIV-Infected Cambodians. | Eloy P | Antimicrobial agents and chemotherapy | 2017 | PMID: 28947469 |
| Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin. | Soeria-Atmadja S | PloS one | 2017 | PMID: 28886044 |
| CYP2B6 Haplotype Predicts Efavirenz Plasma Concentration in Black South African HIV-1-Infected Children: A Longitudinal Pediatric Pharmacogenomic Study. | Reay R | Omics : a journal of integrative biology | 2017 | PMID: 28816644 |
| Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/Ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus. | Liu X | Pharmacotherapy | 2017 | PMID: 28718515 |
| CYP2B6 genotypes and early efavirenz-based HIV treatment outcomes in Botswana. | Gross R | AIDS (London, England) | 2017 | PMID: 28692529 |
| CYP2B6 516 G>T polymorphism and side effects of the central nervous system in HIV-positive individuals under Efavirenz treatment: Study of a sample from southern Brazil. | Müller TE | Anais da Academia Brasileira de Ciencias | 2017 | PMID: 28492729 |
| The Effect of Gene Variants on Levonorgestrel Pharmacokinetics When Combined With Antiretroviral Therapy Containing Efavirenz or Nevirapine. | Neary M | Clinical pharmacology and therapeutics | 2017 | PMID: 28187506 |
| Cytochrome 2B6 polymorphism and efavirenz-induced central nervous system symptoms : a substudy of the ANRS ALIZE trial. | Gallien S | HIV medicine | 2017 | PMID: 28145050 |
| Impact of efavirenz pharmacokinetics and pharmacogenomics on neuropsychological performance in older HIV-infected patients. | Sandkovsky U | The Journal of antimicrobial chemotherapy | 2017 | PMID: 27655857 |
| Dose Optimization of Efavirenz Based on Individual CYP2B6 Polymorphisms in Chinese Patients Positive for HIV. | Hui KH | CPT: pharmacometrics & systems pharmacology | 2016 | PMID: 27299708 |
| Pregnancy affects nevirapine pharmacokinetics: evidence from a CYP2B6 genotype-guided observational study. | Olagunju A | Pharmacogenetics and genomics | 2016 | PMID: 27195527 |
| Case report: Severe central nervous system manifestations associated with aberrant efavirenz metabolism in children: the role of CYP2B6 genetic variation. | Pinillos F | BMC infectious diseases | 2016 | PMID: 26831894 |
| An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3'-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients. | Swart M | Frontiers in genetics | 2016 | PMID: 26779253 |
| Efavirenz pharmacogenetics in a cohort of Italian patients. | Cusato J | International journal of antimicrobial agents | 2016 | PMID: 26774523 |
| Effects of CYP2B6 and CYP1A2 Genetic Variation on Nevirapine Plasma Concentration and Pharmacodynamics as Measured by CD4 Cell Count in Zimbabwean HIV-Infected Patients. | Mhandire D | Omics : a journal of integrative biology | 2015 | PMID: 26348712 |
| Genotype-guided dose adjustment for the use of efavirenz in HIV treatment. | Lam TN | The Journal of infection | 2015 | PMID: 26196596 |
| Effect of CYP2B6 Gene Polymorphisms on Efavirenz Plasma Concentrations in Chinese Patients with HIV Infection. | Meng X | PloS one | 2015 | PMID: 26107645 |
| Lipid-based nutrient supplements do not affect efavirenz but lower plasma nevirapine concentrations in Ethiopian adult HIV patients. | Abdissa A | HIV medicine | 2015 | PMID: 25974723 |
| CYP2B6*6, CYP2B6*18, Body weight and sex are predictors of efavirenz pharmacokinetics and treatment response: population pharmacokinetic modeling in an HIV/AIDS and TB cohort in Zimbabwe. | Dhoro M | BMC pharmacology & toxicology | 2015 | PMID: 25889207 |
| Breast milk pharmacokinetics of efavirenz and breastfed infants' exposure in genetically defined subgroups of mother-infant pairs: an observational study. | Olagunju A | Clinical infectious diseases : an official publication of the Infectious Diseases Society of America | 2015 | PMID: 25882300 |
| Is there a need to increase the dose of efavirenz during concomitant rifampicin-based antituberculosis therapy in sub-Saharan Africa? The HIV-TB pharmagene study. | Habtewold A | Pharmacogenomics | 2015 | PMID: 25831219 |
| Pharmacogenetics of pregnancy-induced changes in efavirenz pharmacokinetics. | Olagunju A | Clinical pharmacology and therapeutics | 2015 | PMID: 25669165 |
| Pharmacogenetics of plasma efavirenz exposure in HIV-infected adults and children in South Africa. | Sinxadi PZ | British journal of clinical pharmacology | 2015 | PMID: 25611810 |
| Cerebrospinal fluid exposure of efavirenz and its major metabolites when dosed at 400 mg and 600 mg once daily: a randomized controlled trial. | Winston A | Clinical infectious diseases : an official publication of the Infectious Diseases Society of America | 2015 | PMID: 25501988 |
| CYP2B6 genotype, but not rifampicin-based anti-TB cotreatments, explains variability in long-term efavirenz plasma exposure. | Mukonzo JK | Pharmacogenomics | 2014 | PMID: 25303294 |
| Dose reduction of efavirenz: an observational study describing cost-effectiveness, pharmacokinetics and pharmacogenetics. | Martín AS | Pharmacogenomics | 2014 | PMID: 24956253 |
| CYP2B6 516G>T (rs3745274) and smoking status are associated with efavirenz plasma concentration in a Serbian cohort of HIV patients. | Olagunju A | Therapeutic drug monitoring | 2014 | PMID: 24831655 |
| Therapeutic drug monitoring and pharmacogenetic study of HIV-infected ethnic Chinese receiving efavirenz-containing antiretroviral therapy with or without rifampicin-based anti-tuberculous therapy. | Lee KY | PloS one | 2014 | PMID: 24551111 |
| The role of genetic polymorphisms in cytochrome P450 and effects of tuberculosis co-treatment on the predictive value of CYP2B6 SNPs and on efavirenz plasma levels in adult HIV patients. | Bienvenu E | Antiviral research | 2014 | PMID: 24316028 |
| CYP2B6-G516T genotype influences plasma efavirenz concentration in a Hong Kong population, allowing potential individualization of therapy. | Naftalin CM | HIV medicine | 2014 | PMID: 24299220 |
| Population pharmacokinetic and pharmacogenetic analysis of nevirapine in hypersensitive and tolerant HIV-infected patients from Malawi. | Dickinson L | Antimicrobial agents and chemotherapy | 2014 | PMID: 24217698 |
| Pharmacometric characterization of efavirenz developmental pharmacokinetics and pharmacogenetics in HIV-infected children. | Salem AH | Antimicrobial agents and chemotherapy | 2014 | PMID: 24145522 |
| Pharmacogenetic associations with plasma efavirenz concentrations and clinical correlates in a retrospective cohort of Ghanaian HIV-infected patients. | Sarfo FS | The Journal of antimicrobial chemotherapy | 2014 | PMID: 24080498 |
| Sleep quality in efavirenz-treated Chinese HIV patients - comparing between GT and GG genotype of CYP2B6-516 G/T polymorphisms. | Lee SS | International journal of STD & AIDS | 2014 | PMID: 23970651 |
| Lack of association between plasma levels of non-nucleoside reverse transcriptase inhibitors & virological outcomes during rifampicin co-administration in HIV-infected TB patients. | Ramachandran G | The Indian journal of medical research | 2013 | PMID: 24521642 |
| Genetic variants of drug metabolizing enzymes and drug transporter (ABCB1) as possible biomarkers for adverse drug reactions in an HIV/AIDS cohort in Zimbabwe. | Dhoro M | Current HIV research | 2013 | PMID: 24517233 |
| Measuring the overall genetic component of nevirapine pharmacokinetics and the role of selected polymorphisms: towards addressing the missing heritability in pharmacogenetic phenotypes? | Micheli JE | Pharmacogenetics and genomics | 2013 | PMID: 23982262 |
| Impact of pharmacogenetics on CNS side effects related to efavirenz. | Sánchez Martín A | Pharmacogenomics | 2013 | PMID: 23859571 |
| Efavirenz induced acute liver failure requiring liver transplantation in a slow drug metaboliser. | Elsharkawy AM | Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology | 2013 | PMID: 23763943 |
| Influence of efavirenz pharmacokinetics and pharmacogenetics on neuropsychological disorders in Ugandan HIV-positive patients with or without tuberculosis: a prospective cohort study. | Mukonzo JK | BMC infectious diseases | 2013 | PMID: 23734829 |
| High plasma efavirenz concentration and CYP2B6 polymorphisms in Thai HIV-1 infections. | Sukasem C | Drug metabolism and pharmacokinetics | 2013 | PMID: 23399569 |
| Impact of pharmacogenetic markers of CYP2B6, clinical factors, and drug-drug interaction on efavirenz concentrations in HIV/tuberculosis-coinfected patients. | Manosuthi W | Antimicrobial agents and chemotherapy | 2013 | PMID: 23254426 |
| Correlates of efavirenz exposure in Chilean patients affected with human immunodeficiency virus reveals a novel association with a polymorphism in the constitutive androstane receptor. | Cortes CP | Therapeutic drug monitoring | 2013 | PMID: 23172109 |
| Genome-wide association study of plasma efavirenz pharmacokinetics in AIDS Clinical Trials Group protocols implicates several CYP2B6 variants. | Holzinger ER | Pharmacogenetics and genomics | 2012 | PMID: 23080225 |
| Correlation of CYP2B6-516G > T Polymorphism with Plasma Efavirenz Concentration and Depression in HIV-Infected Adults in Northern Thailand. | Aurpibul L | Current HIV research | 2012 | PMID: 22950382 |
| A single-nucleotide polymorphism in CYP2B6 leads to >3-fold increases in efavirenz concentrations in plasma and hair among HIV-infected women. | Gandhi M | The Journal of infectious diseases | 2012 | PMID: 22927450 |
| Influence of CYP2B6 and ABCB1 SNPs on nevirapine plasma concentrations in Burundese HIV-positive patients using dried sample spot devices. | Calcagno A | British journal of clinical pharmacology | 2012 | PMID: 22680342 |
| Mid-dosing interval efavirenz plasma concentrations in HIV-1-infected children in Rwanda: treatment efficacy, tolerability, adherence, and the influence of CYP2B6 polymorphisms. | Mutwa PR | Journal of acquired immune deficiency syndromes (1999) | 2012 | PMID: 22481606 |
| Pharmacogenetic markers of CYP2B6 associated with efavirenz plasma concentrations in HIV-1 infected Thai adults. | Sukasem C | British journal of clinical pharmacology | 2012 | PMID: 22471906 |
| Associations between ABCB1, CYP2A6, CYP2B6, CYP2D6, and CYP3A5 alleles in relation to efavirenz and nevirapine pharmacokinetics in HIV-infected individuals. | Heil SG | Therapeutic drug monitoring | 2012 | PMID: 22354160 |
| Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians. | Brown KC | Pharmacogenomics | 2012 | PMID: 22111602 |
| Influence of CYP2B6 516G>T polymorphism and interoccasion variability (IOV) on the population pharmacokinetics of efavirenz in HIV-infected South African children. | Viljoen M | European journal of clinical pharmacology | 2012 | PMID: 22057858 |
| Integration of absorption, distribution, metabolism, and elimination genotyping data into a population pharmacokinetic analysis of nevirapine. | Lehr T | Pharmacogenetics and genomics | 2011 | PMID: 21860339 |
| Cytochrome P450 2B6 (CYP2B6) and constitutive androstane receptor (CAR) polymorphisms are associated with early discontinuation of efavirenz-containing regimens. | Wyen C | The Journal of antimicrobial chemotherapy | 2011 | PMID: 21715435 |
| Absence seizures associated with efavirenz initiation. | Strehlau R | The Pediatric infectious disease journal | 2011 | PMID: 21633320 |
| Integration of population pharmacokinetics and pharmacogenetics: an aid to optimal nevirapine dose selection in HIV-infected individuals. | Schipani A | The Journal of antimicrobial chemotherapy | 2011 | PMID: 21441248 |
| Factors influencing plasma nevirapine levels: a study in HIV-infected children on generic antiretroviral treatment in India. | Swaminathan S | The Journal of antimicrobial chemotherapy | 2011 | PMID: 21393201 |
| Tribal ethnicity and CYP2B6 genetics in Ugandan and Zimbabwean populations in the UK: implications for efavirenz dosing in HIV infection. | Jamshidi Y | The Journal of antimicrobial chemotherapy | 2010 | PMID: 20952418 |
| Influence of host genetic factors on efavirenz plasma and intracellular pharmacokinetics in HIV-1-infected patients. | Elens L | Pharmacogenomics | 2010 | PMID: 20860463 |
| Efavirenz plasma concentrations and cytochrome 2B6 polymorphisms. | Lindfelt T | The Annals of pharmacotherapy | 2010 | PMID: 20841522 |
| Presence of the CYP2B6 516G> T polymorphism, increased plasma Efavirenz concentrations and early neuropsychiatric side effects in South African HIV-infected patients. | Gounden V | AIDS research and therapy | 2010 | PMID: 20723261 |
| The convergence of therapeutic drug monitoring and pharmacogenetic testing to optimize efavirenz therapy. | Cabrera Figueroa S | Therapeutic drug monitoring | 2010 | PMID: 20720517 |
| Haplotype structure of CYP2B6 and association with plasma efavirenz concentrations in a Chilean HIV cohort. | Carr DF | The Journal of antimicrobial chemotherapy | 2010 | PMID: 20639527 |
| CYP2B6 polymorphism and nonnucleoside reverse transcriptase inhibitor plasma concentrations in Chinese HIV-infected patients. | Chen J | Therapeutic drug monitoring | 2010 | PMID: 20625352 |
| Long-term efficacy and safety of efavirenz dose reduction to 200 mg once daily in a Caucasian patient with HIV. | Cabrera Figueroa S | Clinical drug investigation | 2010 | PMID: 20441246 |
| Effects of CYP2B6 G516T polymorphisms on plasma efavirenz and nevirapine levels when co-administered with rifampicin in HIV/TB co-infected Thai adults. | Uttayamakul S | AIDS research and therapy | 2010 | PMID: 20338069 |
| CYP2B6, CYP2A6 and UGT2B7 genetic polymorphisms are predictors of efavirenz mid-dose concentration in HIV-infected patients. | Kwara A | AIDS (London, England) | 2009 | PMID: 19779319 |
| Effect of rifampicin-based antitubercular therapy and the cytochrome P450 2B6 516G>T polymorphism on efavirenz concentrations in adults in South Africa. | Cohen K | Antiviral therapy | 2009 | PMID: 19704172 |
| CYP2B6 variants and plasma efavirenz concentrations during antiretroviral therapy in Port-au-Prince, Haiti. | Leger P | The Journal of infectious diseases | 2009 | PMID: 19659438 |
| Pharmacokinetics of plasma efavirenz and CYP2B6 polymorphism in southern Chinese. | To KW | Therapeutic drug monitoring | 2009 | PMID: 19531981 |
| Plasma efavirenz concentrations and the association with CYP2B6-516G >T polymorphism in HIV-infected Thai children. | Puthanakit T | Antiviral therapy | 2009 | PMID: 19474465 |
| Influence of the cytochrome P450 2B6 genotype on population pharmacokinetics of efavirenz in human immunodeficiency virus patients. | Cabrera SE | Antimicrobial agents and chemotherapy | 2009 | PMID: 19433561 |
| CYP2B6 (c.516G-->T) and CYP2A6 (*9B and/or *17) polymorphisms are independent predictors of efavirenz plasma concentrations in HIV-infected patients. | Kwara A | British journal of clinical pharmacology | 2009 | PMID: 19371316 |
| Cytochrome P450 2B6 516G-->T is associated with plasma concentrations of nevirapine at both 200 mg twice daily and 400 mg once daily in an ethnically diverse population. | Mahungu T | HIV medicine | 2009 | PMID: 19228205 |
| Association of high T allele frequency of CYP2B6 G516T polymorphism among ethnic south Indian HIV-infected patients with elevated plasma efavirenz and nevirapine. | Ramachandran G | The Journal of antimicrobial chemotherapy | 2009 | PMID: 19218571 |
| CYP2B6 G516T polymorphism but not rifampin coadministration influences steady-state pharmacokinetics of efavirenz in human immunodeficiency virus-infected patients in South India. | Ramachandran G | Antimicrobial agents and chemotherapy | 2009 | PMID: 19124658 |
| A pharmacokinetic and pharmacogenetic study of efavirenz in children: dosing guidelines can result in subtherapeutic concentrations. | ter Heine R | Antiviral therapy | 2008 | PMID: 18839779 |
| The pharmacokinetics and pharmacogenomics of efavirenz and lopinavir/ritonavir in HIV-infected persons requiring hemodialysis. | Gupta SK | AIDS (London, England) | 2008 | PMID: 18784455 |
| Pharmacokinetics of efavirenz when co-administered with rifampin in TB/HIV co-infected patients: pharmacogenetic effect of CYP2B6 variation. | Kwara A | Journal of clinical pharmacology | 2008 | PMID: 18728241 |
| Status epilepticus resulting from severe efavirenz toxicity in an HIV-infected patient. | Nijhawan AE | The AIDS reader | 2008 | PMID: 18655316 |
| Successful use of reduced-dose efavirenz in a patient with human immunodeficiency virus infection: case report and review of the literature. | Torno MS | Pharmacotherapy | 2008 | PMID: 18503405 |
| Impact of CYP2B6 983T>C polymorphism on non-nucleoside reverse transcriptase inhibitor plasma concentrations in HIV-infected patients. | Wyen C | The Journal of antimicrobial chemotherapy | 2008 | PMID: 18281305 |
| High prevalence of the CYP2B6 516G-->T(*6) variant and effect on the population pharmacokinetics of efavirenz in HIV/AIDS outpatients in Zimbabwe. | Nyakutira C | European journal of clinical pharmacology | 2008 | PMID: 18057928 |
| Psychosis in a 12-year-old HIV-positive girl with an increased serum concentration of efavirenz. | Lowenhaupt EA | Clinical infectious diseases : an official publication of the Infectious Diseases Society of America | 2007 | PMID: 17968817 |
| Successful efavirenz dose reduction in HIV type 1-infected individuals with cytochrome P450 2B6 *6 and *26. | Gatanaga H | Clinical infectious diseases : an official publication of the Infectious Diseases Society of America | 2007 | PMID: 17918089 |
| Efavirenz pharmacokinetics in HIV-1-infected children are associated with CYP2B6-G516T polymorphism. | Saitoh A | Journal of acquired immune deficiency syndromes (1999) | 2007 | PMID: 17356468 |
| Multilocus genetic interactions and response to efavirenz-containing regimens: an adult AIDS clinical trials group study. | Motsinger AA | Pharmacogenetics and genomics | 2006 | PMID: 17047492 |
| Genotyping of CYP2B6 and therapeutic drug monitoring in an HIV-infected patient with high efavirenz plasma concentrations and severe CNS side-effects. | Mathiesen S | Scandinavian journal of infectious diseases | 2006 | PMID: 16857630 |
| Identification of a novel specific CYP2B6 allele in Africans causing impaired metabolism of the HIV drug efavirenz. | Wang J | Pharmacogenetics and genomics | 2006 | PMID: 16495778 |
| Pharmacogenetics of plasma efavirenz exposure after treatment discontinuation: an Adult AIDS Clinical Trials Group Study. | Ribaudo HJ | Clinical infectious diseases : an official publication of the Infectious Diseases Society of America | 2006 | PMID: 16392089 |
| Pharmacogenetics of long-term responses to antiretroviral regimens containing Efavirenz and/or Nelfinavir: an Adult Aids Clinical Trials Group Study. | Haas DW | The Journal of infectious diseases | 2005 | PMID: 16267764 |
| Influence of CYP2B6 polymorphism on plasma and intracellular concentrations and toxicity of efavirenz and nevirapine in HIV-infected patients. | Rotger M | Pharmacogenetics and genomics | 2005 | PMID: 15864119 |
| Influence of 516G>T polymorphisms at the gene encoding the CYP450-2B6 isoenzyme on efavirenz plasma concentrations in HIV-infected subjects. | Rodriguez-Novoa S | Clinical infectious diseases : an official publication of the Infectious Diseases Society of America | 2005 | PMID: 15825040 |
| Efavirenz intoxication due to slow hepatic metabolism. | Hasse B | Clinical infectious diseases : an official publication of the Infectious Diseases Society of America | 2005 | PMID: 15668854 |
| Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical Trials Group study. | Haas DW | AIDS (London, England) | 2004 | PMID: 15622315 |
| https://www.pharmgkb.org/clinicalAnnotation/827923032 | - | - | - | - |
| https://www.pharmgkb.org/clinicalAnnotation/827923042 | - | - | - | - |
| https://www.pharmgkb.org/clinicalAnnotation/981202294 | - | - | - | - |
| https://www.pharmgkb.org/variant/PA166155409 | - | - | - | - |
| click to load more click to collapse | ||||
Text-mined citations for rs3745274 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 25, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.