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CYP2C9*5

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Interpretation:
Benign/Likely benign; drug response; other​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6
First in ClinVar:
May 22, 2016
Most recent Submission:
Jun 18, 2022
Last evaluated:
Jan 20, 2020
Accession:
VCV000225984.13
Variation ID:
225984
Description:
single nucleotide variant
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CYP2C9*5

Allele ID
227774
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.33
Genomic location
10: 94981301 (GRCh38) GRCh38 UCSC
10: 96741058 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000771.4:c.1080C>G MANE Select NP_000762.2:p.Asp360Glu missense
NC_000010.11:g.94981301C>G
NC_000010.10:g.96741058C>G
... more HGVS
Protein change
D360E
Other names
NM_000771.4(CYP2C9):c.1080C>G (p.Asp360Glu)
1080C>G
Canonical SPDI
NC_000010.11:94981300:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00459 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00342
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00369
1000 Genomes Project 0.00459
The Genome Aggregation Database (gnomAD) 0.00354
Trans-Omics for Precision Medicine (TOPMed) 0.00330
Links
PharmGKB Clinical Annotation: 637879793
ClinGen: CA5617301
Genetic Testing Registry (GTR): GTR000552448
UniProtKB: P11712#VAR_013516
dbSNP: rs28371686
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign; other 3 criteria provided, multiple submitters, no conflicts Jan 20, 2020 RCV000308849.8
drug response 1 criteria provided, single submitter Feb 11, 2019 RCV000787931.3
drug response 1 criteria provided, single submitter Feb 11, 2019 RCV000788101.3
drug response 1 criteria provided, single submitter Feb 11, 2019 RCV000788095.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CYP2C9 - - GRCh38
GRCh37
15 42

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
other
(Dec 28, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Eurofins NTD LLC (GA)
Accession: SCV000338708.3
First in ClinVar: Dec 06, 2016
Last updated: Dec 06, 2016
Other databases
http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYP2C9
Sex: mixed
drug response
(Feb 11, 2019)
criteria provided, single submitter
Method: curation
Flurbiprofen response
Drug used for Pain , Inflammation , Osteoarthritis , Rheumatoid Arthritis , Bursitis , and Tendinitis
Affected status: yes
Allele origin: germline
Medical Genetics Summaries
Accession: SCV000926950.1
First in ClinVar: Jul 21, 2019
Last updated: Jul 21, 2019
Publications:
PubMed (5)
Other databases
https://dailymed.nlm.nih.gov/dai… https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=4e5c06f1-f279-4f2f-b10d-0f70005a27e6
Comment:
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 … (more)
drug response
(Feb 11, 2019)
criteria provided, single submitter
Method: curation
Lesinurad response
Drug used for Gout
Affected status: yes
Allele origin: germline
Medical Genetics Summaries
Accession: SCV000927093.1
First in ClinVar: Jul 24, 2019
Last updated: Jul 24, 2019
Publications:
PubMed (1)
PubMed: 30742400
Other databases
https://dailymed.nlm.nih.gov/dai… https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=ef9e7711-f478-4e35-bf4e-6021c8457e3b
Comment:
Lesinurad should be used with caution in individuals with 2 decreased function alleles (CYP2C9 poor metabolizers) because of increased exposure and an increased risk of … (more)
drug response
(Feb 11, 2019)
criteria provided, single submitter
Method: curation
Piroxicam response
Drug used for Pain , Inflammation , Osteoarthritis , and Rheumatoid arthritis
Affected status: yes
Allele origin: germline
Medical Genetics Summaries
Accession: SCV000927099.1
First in ClinVar: Jul 24, 2019
Last updated: Jul 24, 2019
Publications:
PubMed (6)
Other databases
https://dailymed.nlm.nih.gov/dai… https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=6039e036-c0aa-4249-af50-115f49ad758a
Comment:
Individuals with 2 decreased function alleles (CYP2C9 poor metabolizers) have reduced clearance of piroxicam. Because the standard recommended dose of piroxicam may cause abnormally high … (more)
Likely benign
(Aug 06, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV002005482.1
First in ClinVar: Nov 29, 2021
Last updated: Nov 29, 2021
Comment:
This variant is associated with the following publications: (PMID: 11455026, 25087612, 19204079, 23752738)
Benign
(Jan 20, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001724076.2
First in ClinVar: Jun 15, 2021
Last updated: Jun 18, 2022

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Piroxicam Therapy and <i>CYP2C9</i> Genotype Dean L - 2019 PMID: 30742401
Lesinurad Therapy and <i>CYP2C9</i> Genotype Dean L - 2019 PMID: 30742400
Flurbiprofen Therapy and <i>CYP2C9</i> Genotype Dean L - 2019 PMID: 30742399
Efficacy of piroxicam for postoperative pain after lower third molar surgery associated with <i>CYP2C8*3</i> and <i>CYP2C9</i>. Calvo AM Journal of pain research 2017 PMID: 28740425
CYP2C9 genotype vs. metabolic phenotype for individual drug dosing--a correlation analysis using flurbiprofen as probe drug. Vogl S PloS one 2015 PMID: 25775139
Effects of CYP2C9*1/*3 genotype on the pharmacokinetics of flurbiprofen in Korean subjects. Lee YJ Archives of pharmacal research 2015 PMID: 25712887
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 Expert opinion on drug metabolism & toxicology 2009 PMID: 19422321
Genetic susceptibility to nonsteroidal anti-inflammatory drug-related gastroduodenal bleeding: role of cytochrome P450 2C9 polymorphisms. Pilotto A Gastroenterology 2007 PMID: 17681167
Impact of CYP2C9*3/*3 genotype on the pharmacokinetics and pharmacodynamics of piroxicam. Perini JA Clinical pharmacology and therapeutics 2006 PMID: 17112811
Influence of CYP2C9 genotypes on the pharmacokinetics and pharmacodynamics of piroxicam. Perini JA Clinical pharmacology and therapeutics 2005 PMID: 16198655
Differences in flurbiprofen pharmacokinetics between CYP2C9*1/*1, *1/*2, and *1/*3 genotypes. Lee CR European journal of clinical pharmacology 2003 PMID: 12698304
DailyMed Drug Label, FLURBIPROFEN, 2021 - - - -
DailyMed Drug Label, ZURAMPIC, 2018 - - - -
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYP2C9 - - - -
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=4e5c06f1-f279-4f2f-b10d-0f70005a27e6 - - - -
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=6039e036-c0aa-4249-af50-115f49ad758a - - - -
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=ef9e7711-f478-4e35-bf4e-6021c8457e3b - - - -

Text-mined citations for rs28371686...

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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 Aug 16, 2022