VCV000633848.2 - ClinVar

CYP2C19*30

Germline

Top reviewed classifications are shown here.

Submission summary:

1 submission

1 submitter

1 condition

Practice guidelines

Drug response

by Clinical Pharm…

for CYP2C19: uncertain function

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

This variant is part of 34 Genotypes

CYP2C19*1/*30
CYP2C19*12/*30
CYP2C19*15/*30
CYP2C19*16/*30
CYP2C19*17/*30
CYP2C19*18/*30
CYP2C19*19/*30
CYP2C19*2/*30
CYP2C19*22/*30
CYP2C19*26/*30
CYP2C19*27/*30
CYP2C19*28/*30
CYP2C19*29/*30
CYP2C19*3/*30
CYP2C19*30/*31
CYP2C19*30/*32
CYP2C19*30/*33
CYP2C19*30/*34
CYP2C19*4B/*30
CYP2C19*5/*30
CYP2C19*8/*30
CYP2C19*9/*30
CYP2C19*13/*30
CYP2C19*23/*30
CYP2C19*4A/*30
CYP2C19*6/*30
CYP2C19*10/*30
CYP2C19*25/*30
CYP2C19*30/*35
CYP2C19*11/*30
CYP2C19*14/*30
CYP2C19*24/*30
CYP2C19*7/*30
CYP2C19*30/*30

Identifiers

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

Variation ID: 633848 Accession: VCV000633848.2

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 10q23.33 10: 94775106 (GRCh38) [ NCBI UCSC ] 10: 96534863 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Jun 17, 2019	Jun 17, 2019

HGVS

Nucleotide	Protein	Molecular consequence
NM_000769.4:c.217C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000760.1:p.Arg73Cys	missense
NC_000010.11:g.94775106C>T
NC_000010.10:g.96534863C>T
NG_008384.3:g.17426C>T

Protein change

R73C

Other names

Canonical SPDI

NC_000010.11:94775105:C:T

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Uncertain function

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

0.00020 (T)

Allele frequency Help The frequency of the allele represented by this VCV record.

1000 Genomes Project 30x 0.00016

1000 Genomes Project 0.00020

The Genome Aggregation Database (gnomAD) 0.00096

Trans-Omics for Precision Medicine (TOPMed) 0.00098

NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00108

Links

dbSNP: rs145328984 VarSome

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

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.
CYP2C19: uncertain function	drug response (1)	practice guideline	-	RCV000782429.10

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 Allele function (-)	practice guideline (Clinical Pharmacogenetics Implementation Consortium) Method: curation	CYP2C19: uncertain function Affected status: not applicable Allele origin: germline	Clinical Pharmacogenetics Implementation Consortium Accession: SCV000920952.1 First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019	Other databases https://www.pharmgkb.org/haploty… https://www.pharmgkb.org/haplotype/PA166160947 https://cpicpgx.org https://cpicpgx.org

Germline Functional Evidence

Functional Help The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence	Method Help 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 Help 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.
Uncertain function			Clinical Pharmacogenetics Implementation Consortium Accession: SCV000920952.1	Other databases https://www.pharmgkb.org/haploty… https://cpicpgx.org

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
https://cpicpgx.org	-	-	-	-
https://www.pharmgkb.org/haplotype/PA166160947	-	-	-	-
https://cpicpgx.org	-	-	-	-
https://www.pharmgkb.org/haplotype/PA166160947	-	-	-	-

Text-mined citations for rs145328984 ...

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 Nov 30, 2024

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