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CYP2C19*5

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Interpretation:
drug response​

Review status:
practice guideline
Submissions:
3 (Most recent: Sep 19, 2018)
Accession:
VCV000016898.2
Variation ID:
16898
Description:
single nucleotide variant
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NM_000769.1(CYP2C19):c.1297C>T (p.Arg433Trp)

Allele ID
31937
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.33
Genomic location
10: 94852738 (GRCh38) GRCh38 UCSC
10: 96612495 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.96612495C>T
NC_000010.11:g.94852738C>T
NM_000769.4:c.1297C>T MANE Select NP_000760.1:p.Arg433Trp missense
NG_008384.3:g.95058C>T
Protein change
R433W
Other names
CYP2C19*5
Canonical SPDI
NC_000010.11:94852737:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA126961
OMIM: 124020.0002
dbSNP: rs56337013
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
CYP2C19: no function
drug response 1 practice guideline - RCV000783657.1
other 1 criteria provided, single submitter Dec 28, 2015 RCV000348667.1
drug response 1 no assertion criteria provided Apr 1, 1998 RCV000018396.29
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CYP2C19 - - GRCh38
GRCh37
237 667

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
drug response
(-)
practice guideline
Method: curation
CYP2C19: no function
Allele origin: germline
Clinical Pharmacogenetics Implementation Consortium
Accession: SCV000922180.1
Submitted: (Mar 01, 2018)
Evidence details
Other databases
https://www.pharmgkb.org/haploty…
https://cpicpgx.org
other
(Dec 28, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000338706.3
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
drug response
(Apr 01, 1998)
no assertion criteria provided
Method: literature only
MEPHENYTOIN, POOR METABOLISM OF
Allele origin: germline
OMIM
Accession: SCV000038678.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

Functional evidence

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Functional consequence Method Result Submitter Supporting information
No function
Clinical Pharmacogenetics Implementation Consortium
Accession: SCV000922180.1
Submitted: (Mar 01, 2018)
Evidence details
Other databases
https://www.pharmgkb.org/haploty…
https://cpicpgx.org

Citations for this variant

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Title Author Journal Year Link
An additional defective allele, CYP2C19*5, contributes to the S-mephenytoin poor metabolizer phenotype in Caucasians. Ibeanu GC Pharmacogenetics 1998 PMID: 10022751
Differences in the incidence of the CYP2C19 polymorphism affecting the S-mephenytoin phenotype in Chinese Han and Bai populations and identification of a new rare CYP2C19 mutant allele. Xiao ZS The Journal of pharmacology and experimental therapeutics 1997 PMID: 9103550
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYP2C19 - - - -
https://cpicpgx.org - - - -
https://www.pharmgkb.org/haplotype/PA166128328 - - - -

Text-mined citations for rs56337013...

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These 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 Jun 26, 2021