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CYP2C19*24 AND CYP2C19: no function

Germline classification:
drug response (1 submission)
Review status:
4 stars out of maximum of 4 stars
practice guideline
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000783654.10

Alleles description [Variation Report for CYP2C19*24]

NM_000769.4(CYP2C19):c.1197A>G (p.Lys399=)

Gene:
CYP2C19:cytochrome P450 family 2 subfamily C member 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_000769.4(CYP2C19):c.1197A>G (p.Lys399=)
HGVS:
  • NC_000010.11:g.94849964A>G
  • NG_008384.3:g.92284A>G
  • NM_000769.4:c.1197A>GMANE SELECT
  • NP_000760.1:p.Lys399=
  • NC_000010.10:g.96609721A>G
  • NM_000769.1:c.1197A>G
Links:
dbSNP: rs377184510
NCBI 1000 Genomes Browser:
rs377184510
Molecular consequence:
  • NM_000769.4:c.1197A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Functional consequence:
No function

NM_000769.4(CYP2C19):c.1004G>A (p.Arg335Gln)

Gene:
CYP2C19:cytochrome P450 family 2 subfamily C member 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_000769.4(CYP2C19):c.1004G>A (p.Arg335Gln)
HGVS:
  • NC_000010.11:g.94842879G>A
  • NG_008384.3:g.85199G>A
  • NM_000769.4:c.1004G>AMANE SELECT
  • NP_000760.1:p.Arg335Gln
  • NC_000010.10:g.96602636G>A
Protein change:
R335Q
Links:
dbSNP: rs118203757
NCBI 1000 Genomes Browser:
rs118203757
Molecular consequence:
  • NM_000769.4:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
No function

Condition(s)

Name:
CYP2C19: no function
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000922177Clinical Pharmacogenetics Implementation Consortium
practice guideline

(Clinical Pharmacogenetics Implementation Consortium)		drug response
Condition: CYP2C19: no function		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot applicablenot providednot providednot providednot providednot providedcuration

Citations

PubMed

CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network.

Relling MV, Klein TE.

Clin Pharmacol Ther. 2011 Mar;89(3):464-7. doi: 10.1038/clpt.2010.279. Epub 2011 Jan 26. No abstract available.

PubMed [citation]
PMID:
21270786
PMCID:
PMC3098762

Details of each submission

From Clinical Pharmacogenetics Implementation Consortium, SCV000922177.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 26, 2024