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CYP2C9*6 AND Flurbiprofen response

Germline classification:
drug response (1 submission)
Last evaluated:
Feb 11, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000787932.2

Allele description [Variation Report for CYP2C9*6]

CYP2C9*6

Gene:
CYP2C9:cytochrome P450 family 2 subfamily C member 9 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
CYP2C9*6
Other names:
NM_000771.3(CYP2C9):c.818delA (p.Lys273Argfs); 818delA; Lys273Argfs
HGVS:
  • NC_000010.11:g.94949283del
  • NG_008385.2:g.16126del
  • NM_000771.3:c.817del
  • NM_000771.4:c.818delMANE SELECT
  • NP_000762.2:p.Lys273fs
  • LRG_1195t1:c.818del
  • LRG_1195:g.16126del
  • LRG_1195p1:p.Lys273fs
  • NC_000010.10:g.96709039del
  • NC_000010.10:g.96709040del
  • NG_008385.1:g.15626del
  • NM_000771.3:c.817del
  • NM_000771.3:c.817delA
  • NM_000771.3:c.818del
Protein change:
K273fs
Links:
Medical Genetics Summaries: CYP2C9*6; dbSNP: rs9332131
NCBI 1000 Genomes Browser:
rs9332131
Molecular consequence:
  • NM_000771.4:c.818del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Flurbiprofen response
Synonyms:
Ocufen response; Ansaid response
Identifiers:
MedGen: CN258139

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000926951Medical Genetics Summaries
criteria provided, single submitter

(Medical Genetics Summaries: Flurbiprofen Therapy and CYP2C9 Genotype)		drug response
(Feb 11, 2019)
Condition: Flurbiprofen response
Drug reported used for: Pain		germlinecuration

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Genetically based impairment in CYP2C8- and CYP2C9-dependent NSAID metabolism as a risk factor for gastrointestinal bleeding: is a combination of pharmacogenomics and metabolomics required to improve personalized medicine?

Agúndez JA, García-Martín E, Martínez C.

Expert Opin Drug Metab Toxicol. 2009 Jun;5(6):607-20. doi: 10.1517/17425250902970998 . Review.

PubMed [citation]
PMID:
19422321

Differences in flurbiprofen pharmacokinetics between CYP2C9*1/*1, *1/*2, and *1/*3 genotypes.

Lee CR, Pieper JA, Frye RF, Hinderliter AL, Blaisdell JA, Goldstein JA.

Eur J Clin Pharmacol. 2003 Apr;58(12):791-4. Epub 2003 Feb 26.

PubMed [citation]
PMID:
12698304
See all PubMed Citations (5)

Details of each submission

From Medical Genetics Summaries, SCV000926951.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (5)

Description

The dose of flurbiprofen should be reduced in individuals with 2 decreased function alleles (CYP2C9 poor metabolizers) to avoid abnormally high plasma levels due to reduced metabolic clearance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024