VCV000634419.4 - ClinVar

CYP2C194B/23

Germline

Top reviewed classifications are shown here.

Submission summary:

4 submissions

1 submitter

4 conditions

Practice guidelines

Drug response

by Clinical Pharm…

for Citalopram response

Drug response

by Clinical Pharm…

for Escitalopram response

Drug response

by Clinical Pharm…

for Sertraline response

Drug response

by Clinical Pharm…

for Voriconazole response

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

This genotype includes the following haplotypes

CYP2C194B/23

Other names: -
Functional consequence: -
Links: -

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help 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.
CYP2C19		-	-	GRCh38 GRCh37	238	671
LOC110599570	-	-	-	GRCh38	-	178

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help 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 Help 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 Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Voriconazole response	drug response (1)	practice guideline	-	RCV000784705.10
Citalopram response	drug response (1)	practice guideline	-	RCV000784225.10
Sertraline response	drug response (1)	practice guideline	-	RCV000784558.10
Escitalopram response	drug response (1)	practice guideline	-	RCV000784226.10

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help 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 Help 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 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 the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
drug response Indeterminate (-)	practice guideline (Clinical Pharmacogenetics Implementation Consortium) Method: curation	Citalopram response Affected status: not applicable Allele origin: germline	Clinical Pharmacogenetics Implementation Consortium Accession: SCV000922748.2 First in ClinVar: Jun 17, 2019 Last updated: Sep 03, 2023	Publications: PubMed (1) PubMed: 25974703 Other databases https://www.pharmgkb.org/guideli… https://www.pharmgkb.org/guideline/PA166127638 https://cpicpgx.org/guidelines/g… https://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/
drug response Indeterminate (-)	practice guideline (Clinical Pharmacogenetics Implementation Consortium) Method: curation	Escitalopram response Affected status: not applicable Allele origin: germline	Clinical Pharmacogenetics Implementation Consortium Accession: SCV000922749.2 First in ClinVar: Jun 17, 2019 Last updated: Sep 03, 2023	Publications: PubMed (1) PubMed: 25974703 Other databases https://www.pharmgkb.org/guideli… https://www.pharmgkb.org/guideline/PA166127638 https://cpicpgx.org/guidelines/g… https://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/
drug response Indeterminate (-)	practice guideline (Clinical Pharmacogenetics Implementation Consortium) Method: curation	Sertraline response Affected status: not applicable Allele origin: germline	Clinical Pharmacogenetics Implementation Consortium Accession: SCV000923081.2 First in ClinVar: Jun 17, 2019 Last updated: Sep 03, 2023	Publications: PubMed (1) PubMed: 25974703 Other databases https://www.pharmgkb.org/guideli… https://www.pharmgkb.org/guideline/PA166127639 https://cpicpgx.org/guidelines/g… https://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/
drug response Indeterminate (-)	practice guideline (Clinical Pharmacogenetics Implementation Consortium) Method: curation	Voriconazole response Affected status: not applicable Allele origin: germline	Clinical Pharmacogenetics Implementation Consortium Accession: SCV000923228.2 First in ClinVar: Jun 17, 2019 Last updated: Sep 03, 2023	Publications: PubMed (1) PubMed: 27981572 Other databases https://www.pharmgkb.org/guideli… https://www.pharmgkb.org/guideline/PA166161537 https://cpicpgx.org/guidelines/g… https://cpicpgx.org/guidelines/guideline-for-voriconazole-and-cyp2c19/

Germline Functional Evidence

Functional Help The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence	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.
No function No function Uncertain function	Clinical Pharmacogenetics Implementation Consortium Accession: SCV000922748.2	Publications PubMed (1) Other databases https://www.pharmgkb.org/guideli… https://cpicpgx.org/guidelines/g…
No function No function Uncertain function	Clinical Pharmacogenetics Implementation Consortium Accession: SCV000922749.2	Publications PubMed (1) Other databases https://www.pharmgkb.org/guideli… https://cpicpgx.org/guidelines/g…
No function No function Uncertain function	Clinical Pharmacogenetics Implementation Consortium Accession: SCV000923081.2	Publications PubMed (1) Other databases https://www.pharmgkb.org/guideli… https://cpicpgx.org/guidelines/g…
No function No function Uncertain function	Clinical Pharmacogenetics Implementation Consortium Accession: SCV000923228.2	Publications PubMed (1) Other databases https://www.pharmgkb.org/guideli… https://cpicpgx.org/guidelines/g…

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
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
A new genetic defect in human CYP2C19: mutation of the initiation codon is responsible for poor metabolism of S-mephenytoin.	Ferguson RJ	The Journal of pharmacology and experimental therapeutics	1998	PMID: 9435198
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	-	-	-	-
https://cpicpgx.org	-	-	-	-
https://cpicpgx.org/guidelines/guideline-for-voriconazole-and-cyp2c19/	-	-	-	-
https://www.pharmgkb.org/guideline/PA166127638	-	-	-	-
https://www.pharmgkb.org/guideline/PA166127639	-	-	-	-
https://www.pharmgkb.org/guideline/PA166161537	-	-	-	-
https://www.pharmgkb.org/haplotype/PA166128327	-	-	-	-
https://www.pharmgkb.org/haplotype/PA166128332	-	-	-	-
https://www.pharmgkb.org/haplotype/PA166160941	-	-	-	-
https://www.pharmgkb.org/haplotype/PA166160944	-	-	-	-
https://www.pharmgkb.org/haplotype/PA166160944	-	-	-	-
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Text-mined citations for this variant ...

Record last updated Dec 07, 2024

ClinVar Genomic variation as it relates to human health

CYP2C19*4B/*23

Variant Details

CYP2C19*4B/*23

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...

CYP2C194B/23

CYP2C194B/23