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CYP2C19*3/*30 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:
RCV000783454.10

Allele description [Variation Report for CYP2C19*3/*30]

NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter)

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.636G>A (p.Trp212Ter)
Other names:
CYP2C19, TRP212TER (rs4986893); CYP2C19m2; CYP2C19*3
HGVS:
  • NC_000010.11:g.94780653G>A
  • NG_008384.3:g.22973G>A
  • NM_000769.4:c.636G>AMANE SELECT
  • NP_000760.1:p.Trp212Ter
  • NC_000010.10:g.96540410G>A
  • NM_000769.2:c.636G>A
Protein change:
W212*; TRP212TER
Links:
Genetic Testing Registry (GTR): GTR000613302; PharmGKB Clinical Annotation: 981201917; OMIM: 124020.0003; dbSNP: rs4986893
NCBI 1000 Genomes Browser:
rs4986893
Molecular consequence:
  • NM_000769.4:c.636G>A - nonsense - [Sequence Ontology: SO:0001587]

NM_000769.4(CYP2C19):c.217C>T (p.Arg73Cys)

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_000769.4(CYP2C19):c.217C>T (p.Arg73Cys)
HGVS:
  • NC_000010.11:g.94775106C>T
  • NG_008384.3:g.17426C>T
  • NM_000769.4:c.217C>TMANE SELECT
  • NP_000760.1:p.Arg73Cys
  • NC_000010.10:g.96534863C>T
Protein change:
R73C
Links:
dbSNP: rs145328984
NCBI 1000 Genomes Browser:
rs145328984
Molecular consequence:
  • NM_000769.4:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000921977Clinical 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

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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. doi: 10.1002/cpt.953.

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.

PubMed [citation]
PMID:
21270786
PMCID:
PMC3098762

Details of each submission

From Clinical Pharmacogenetics Implementation Consortium, SCV000921977.1

#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: Nov 30, 2024