ClinVar Genomic variation as it relates to human health
CYP2C19*2/*8
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
CYP2C19*2/*8
- Other names
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- Functional consequence
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- Links
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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. |
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CYP2C19 | - | - |
GRCh38 GRCh37 |
235 | 668 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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
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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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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drug response (1) |
practice guideline
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- | RCV000782699.10 | |
drug response (1) |
practice guideline
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- | RCV000782700.10 | |
drug response (1) |
practice guideline
|
- | RCV000783175.10 | |
drug response (1) |
practice guideline
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- | RCV000783673.10 | |
drug response (1) |
practice guideline
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- | RCV000784840.10 |
Submissions - Germline
Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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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
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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
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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. |
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drug response
Poor Metabolizer
(-)
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practice guideline
Method: curation
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Citalopram response
Affected status: not applicable
Allele origin:
germline
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Clinical Pharmacogenetics Implementation Consortium
Accession: SCV000921222.1
First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019 |
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drug response
Poor Metabolizer
(-)
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practice guideline
Method: curation
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Escitalopram response
Affected status: not applicable
Allele origin:
germline
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Clinical Pharmacogenetics Implementation Consortium
Accession: SCV000921223.1
First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019 |
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drug response
Poor Metabolizer
(-)
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practice guideline
Method: curation
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Sertraline response
Affected status: not applicable
Allele origin:
germline
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Clinical Pharmacogenetics Implementation Consortium
Accession: SCV000921698.1
First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019 |
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drug response
Poor Metabolizer
(-)
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practice guideline
Method: curation
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Clopidogrel response
Affected status: not applicable
Allele origin:
germline
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Clinical Pharmacogenetics Implementation Consortium
Accession: SCV000922196.1
First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019 |
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drug response
Poor Metabolizer
(-)
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practice guideline
Method: curation
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Voriconazole response
Affected status: not applicable
Allele origin:
germline
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Clinical Pharmacogenetics Implementation Consortium
Accession: SCV000923377.1
First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019 |
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Germline Functional Evidence
Functional
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The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
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A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
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A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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No function
No function
No function
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Clinical Pharmacogenetics Implementation Consortium
Accession: SCV000921222.1
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No function
No function
No function
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Clinical Pharmacogenetics Implementation Consortium
Accession: SCV000921223.1
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No function
No function
No function
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Clinical Pharmacogenetics Implementation Consortium
Accession: SCV000921698.1
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No function
No function
No function
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Clinical Pharmacogenetics Implementation Consortium
Accession: SCV000922196.1
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No function
No function
No function
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Clinical Pharmacogenetics Implementation Consortium
Accession: SCV000923377.1
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP2C19 and Voriconazole Therapy. | Moriyama B | Clinical pharmacology and therapeutics | 2017 | PMID: 27981572 |
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors. | Hicks JK | Clinical pharmacology and therapeutics | 2015 | PMID: 25974703 |
Clinical Pharmacogenetics Implementation Consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update. | Scott SA | Clinical pharmacology and therapeutics | 2013 | PMID: 23698643 |
Clinical Pharmacogenetics Implementation Consortium guidelines for cytochrome P450-2C19 (CYP2C19) genotype and clopidogrel therapy. | Scott SA | Clinical pharmacology and therapeutics | 2011 | PMID: 21716271 |
Frequencies of genotypes and alleles of the functional SNPs in CYP2C19 and CYP2E1 in mainland Chinese Kazakh, Uygur and Han populations. | Wang SM | Journal of human genetics | 2009 | PMID: 19444287 |
Cytochrome P450 2C19 loss-of-function polymorphism, but not CYP3A4 IVS10 + 12G/A and P2Y12 T744C polymorphisms, is associated with response variability to dual antiplatelet treatment in high-risk vascular patients. | Giusti B | Pharmacogenetics and genomics | 2007 | PMID: 18004210 |
High frequencies of CYP2C19 mutations and poor metabolism of proguanil in Vanuatu. | Kaneko A | Lancet (London, England) | 1997 | PMID: 9093256 |
The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. | de Morais SM | The Journal of biological chemistry | 1994 | PMID: 8195181 |
CPIC® Guideline for Selective Serotonin Reuptake Inhibitors and CYP2D6 and CYP2C19 https://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/ | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYP2C19 | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYP2C19 | - | - | - | - |
https://cpicpgx.org | - | - | - | - |
https://cpicpgx.org | - | - | - | - |
https://cpicpgx.org | - | - | - | - |
https://cpicpgx.org/guidelines/guideline-for-clopidogrel-and-cyp2c19/ | - | - | - | - |
https://cpicpgx.org/guidelines/guideline-for-voriconazole-and-cyp2c19/ | - | - | - | - |
https://www.pharmgkb.org/guideline/PA166104948 | - | - | - | - |
https://www.pharmgkb.org/guideline/PA166127638 | - | - | - | - |
https://www.pharmgkb.org/guideline/PA166127639 | - | - | - | - |
https://www.pharmgkb.org/guideline/PA166161537 | - | - | - | - |
https://www.pharmgkb.org/haplotype/PA166128325 | - | - | - | - |
https://www.pharmgkb.org/haplotype/PA166128331 | - | - | - | - |
https://www.pharmgkb.org/haplotype/PA166160952 | - | - | - | - |
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Text-mined citations for this variant ...
HelpRecord last updated May 19, 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.