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CYP2C19*10/*31 AND Escitalopram response

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:
RCV000784004.10

Allele description [Variation Report for CYP2C19*10/*31]

NM_000769.1(CYP2C19):c.680C>T (p.Pro227Leu)

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_000769.1(CYP2C19):c.680C>T (p.Pro227Leu)
Other names:
CYP2C19*10
HGVS:
  • NC_000010.11:g.94781858C>T
  • NG_008384.3:g.24178C>T
  • NM_000769.4:c.680C>TMANE SELECT
  • NP_000760.1:p.Pro227Leu
  • NC_000010.10:g.96541615C>T
  • NC_000010.10:g.96541615C>T
  • NM_000769.1:c.680C>T
Protein change:
P227L
Links:
Genetic Testing Registry (GTR): GTR000613302; dbSNP: rs6413438
NCBI 1000 Genomes Browser:
rs6413438
Molecular consequence:
  • NM_000769.4:c.680C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Decreased function

NM_000769.4(CYP2C19):c.232C>T (p.His78Tyr)

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.232C>T (p.His78Tyr)
HGVS:
  • NC_000010.11:g.94775121C>T
  • NG_008384.3:g.17441C>T
  • NM_000769.4:c.232C>TMANE SELECT
  • NP_000760.1:p.His78Tyr
  • NC_000010.10:g.96534878C>T
Protein change:
H78Y
Links:
dbSNP: rs1564660997
NCBI 1000 Genomes Browser:
rs1564660997
Molecular consequence:
  • NM_000769.4:c.232C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Escitalopram response
Synonyms:
Lexapro response
Identifiers:
MedGen: CN221264

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000922527Clinical Pharmacogenetics Implementation Consortium
practice guideline

(Clinical Pharmacogenetics Implementation Consortium)		drug response
Condition: Escitalopram response		germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors.

Hicks JK, Bishop JR, Sangkuhl K, Müller DJ, Ji Y, Leckband SG, Leeder JS, Graham RL, Chiulli DL, LLerena A, Skaar TC, Scott SA, Stingl JC, Klein TE, Caudle KE, Gaedigk A; Clinical Pharmacogenetics Implementation Consortium..

Clin Pharmacol Ther. 2015 Aug;98(2):127-34. doi: 10.1002/cpt.147. Epub 2015 Jun 29.

PubMed [citation]
PMID:
25974703
PMCID:
PMC4512908

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, SCV000922527.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024