|(A;A)||2.1||poor metabolizer of several commonly prescribed drugs|
|(A;G)||2||carrier of a CYP2C19*3 allele, a "slow metabolizer" allele|
rs4986893 is a SNP in the CYP2C19 gene, potentially encoding the CYP2C19*3 variant. This variant has been linked to poor metabolism of compounds like mephenytoin as well as proguanil, and it therefore has implications for malaria prophylaxis. [PMID 7969038, PMID 9093256]
The risk allele is rs4986893(A).
As a nonfunctioning CYP2C19, this variant would be expected to be a poor metabolizer of several commonly prescribed drugs, including anti-ulcer drugs like omeprazole (trade names Losec and Prilosec), esomeprazole (trade name Nexium), and lansoprazole (Prevacid).[PMID 21247447] CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population
|Disease||Mephenytoin Proguanil clopidogrel response - Efficacy not provided|
|CLNDBN||Mephenytoin, poor metabolism of Proguanil, poor metabolism of clopidogrel response - Efficacy, Toxicity/ADR not provided|
|CLNSRC||OMIM Allelic Variant PharmGKB Clinical Annotation|
|CLNACC||RCV000018397.27, RCV000018398.27, RCV000211151.1, RCV000291495.1,|
[PMID 18521743] CYP2C19*17 is associated with decreased breast cancer risk.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 18974781] Cataloging coding sequence variations in human genome databases.
[PMID 19136640] Rapid identification of the hepatic cytochrome P450 2C19 activity using a novel and noninvasive [13C]pantoprazole breath test.
[PMID 21071160] Analysis of 50 SNPs in CYP2D6, CYP2C19, CYP2C9, CYP3A4 and CYP1A2 by MALDI-TOF mass spectrometry in Chinese Han population.
[PMID 22265638] The impact of genetic polymorphisms of P2Y12, CYP3A5 and CYP2C19 on clopidogrel response variability in Iranian patients.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
|summary||CYP2C19*3 allele. Poor metabolism of Mephenytoin, poor metabolism of Proguanil (FDA approved).|
[PMID 23517020] Influence of CYP2C19*2 and *3 loss-of-function alleles on pharmacodynamic effects of standard- and high-dose clopidogrel in East Asians undergoing percutaneous coronary intervention: the results of the ACCEL-DOUBLE-2N3 study
[PMID 23661171] CYP2C19 genotypes and their impact on clopidogrel responsiveness in percutaneous coronary intervention
[PMID 23645039] High prevalence of CYP2C19*2 allele in Roma samples: study on Roma and Hungarian population samples with review of the literature
[PMID 23130019] Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.
[PMID 23133420] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.