U.S. flag

An official website of the United States government

CYP2C19*1/*4A AND Voriconazole response

Germline classification:
drug response (1 submission)
Review status:
4 stars out of maximum of 4 stars
practice guideline
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000783505.9

Allele description [Variation Report for CYP2C19*1/*4A]

NM_000769.1(CYP2C19):c.1A>G (p.Met1Val)

Gene:
CYP2C19:cytochrome P450 family 2 subfamily C member 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_000769.1(CYP2C19):c.1A>G (p.Met1Val)
Other names:
CYP2C19, MET1VAL (rs28399504); CYP2C19*4
HGVS:
  • NC_000010.11:g.94762706A>G
  • NG_008384.3:g.5026A>G
  • NG_055436.1:g.2066A>G
  • NM_000769.4:c.1A>GMANE SELECT
  • NP_000760.1:p.Met1Val
  • NC_000010.10:g.96522463A>G
  • NM_000769.2:c.1A>G
Protein change:
M1V; MET1VAL
Links:
Genetic Testing Registry (GTR): GTR000569665; PharmGKB Clinical Annotation: 982028896; OMIM: 124020.0004; dbSNP: rs28399504
NCBI 1000 Genomes Browser:
rs28399504
Molecular consequence:
  • NM_000769.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_000769.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]

CYP2C19*1

Genes:
LOC110599570:CYP2C19 promoter [Gene]
CYP2C19:cytochrome P450 family 2 subfamily C member 19 [Gene - OMIM - HGNC]
Variant type:
Variation
Cytogenetic location:
10q23.33
Genomic location:
Chr10: 94762681 - 94853205 (on Assembly GRCh38)
Preferred name:
CYP2C19*1
HGVS:
  • NC_000010.11:g.94762681_94853205=
  • NG_008384.2:g.4976_95500=
Links:

Condition(s)

Name:
Voriconazole response
Synonyms:
Vfend response
Identifiers:
MedGen: CN077957

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000922028Clinical Pharmacogenetics Implementation Consortium
practice guideline

(Clinical Pharmacogenetics Implementation Consortium)		drug response
Condition: Voriconazole response		germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot applicablenot providednot providednot providednot providednot providedcuration

Citations

PubMed

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP2C19 and Voriconazole Therapy.

Moriyama B, Obeng AO, Barbarino J, Penzak SR, Henning SA, Scott SA, Agúndez J, Wingard JR, McLeod HL, Klein TE, Cross SJ, Caudle KE, Walsh TJ.

Clin Pharmacol Ther. 2017 Jul;102(1):45-51. doi: 10.1002/cpt.583. Epub 2017 Apr 18. Erratum in: Clin Pharmacol Ther. 2018 Feb;103(2):349.

PubMed [citation]
PMID:
27981572
PMCID:
PMC5474211

CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network.

Relling MV, Klein TE.

Clin Pharmacol Ther. 2011 Mar;89(3):464-7. doi: 10.1038/clpt.2010.279. Epub 2011 Jan 26. No abstract available.

PubMed [citation]
PMID:
21270786
PMCID:
PMC3098762

Details of each submission

From Clinical Pharmacogenetics Implementation Consortium, SCV000922028.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024