ClinVar Genomic variation as it relates to human health
CYP2C9*6
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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CYP2C9*6
Variation ID: 285601 Accession: VCV000285601.14
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 10q23.33 10: 94949282 (GRCh38) [ NCBI UCSC ] 10: 96709039 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 Dec 6, 2016 Feb 14, 2024 Apr 14, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000771.4:c.818del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000762.2:p.Lys273fs frameshift NM_000771.3:c.817delA NC_000010.11:g.94949283del NC_000010.10:g.96709040del NG_008385.2:g.16126del LRG_1195:g.16126del LRG_1195t1:c.818del LRG_1195p1:p.Lys273fs - Protein change
- K273fs
- Other names
- NM_000771.3(CYP2C9):c.818delA (p.Lys273Argfs)
- 818delA
- Lys273Argfs
- Canonical SPDI
- NC_000010.11:94949281:AA:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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-
Global minor allele
frequency (GMAF) HelpThe 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.
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0.00220 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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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 | ||
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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. |
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CYP2C9 | - | - |
GRCh38 GRCh37 |
28 | 63 |
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. |
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Benign/Likely benign; other (3) |
criteria provided, multiple submitters, no conflicts
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Apr 14, 2021 | RCV000363569.9 | |
drug response (1) |
criteria provided, single submitter
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Feb 11, 2019 | RCV000787932.2 | |
drug response (1) |
criteria provided, single submitter
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Feb 11, 2019 | RCV000788102.2 | |
drug response (1) |
criteria provided, single submitter
|
Feb 11, 2019 | RCV000788096.2 |
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. |
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other
(Dec 28, 2015)
|
criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000338709.3
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
Number of individuals with the variant: 3
Sex: mixed
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drug response
(Feb 11, 2019)
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criteria provided, single submitter
Method: curation
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Lesinurad response
Drug used for
Gout
Affected status: yes
Allele origin:
germline
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Medical Genetics Summaries
Accession: SCV000927094.1
First in ClinVar: Jul 24, 2019 Last updated: Jul 24, 2019 |
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)
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 side effects. (less)
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drug response
(Feb 11, 2019)
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criteria provided, single submitter
Method: curation
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Flurbiprofen response
Drug used for
Pain
, Inflammation
, Osteoarthritis
, Rheumatoid Arthritis
, Bursitis
, and Tendinitis
Affected status: yes
Allele origin:
germline
|
Medical Genetics Summaries
Accession: SCV000926951.1
First in ClinVar: Jul 21, 2019 Last updated: Jul 21, 2019 |
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)
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. (less)
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drug response
(Feb 11, 2019)
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criteria provided, single submitter
Method: curation
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Piroxicam response
Drug used for
Pain
, Inflammation
, Osteoarthritis
, and Rheumatoid arthritis
Affected status: yes
Allele origin:
germline
|
Medical Genetics Summaries
Accession: SCV000927100.1
First in ClinVar: Jul 24, 2019 Last updated: Jul 24, 2019 |
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)
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 plasma levels, a dose reduction should be considered for these individuals. (less)
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Likely benign
(Aug 06, 2018)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV002004848.2
First in ClinVar: Nov 06, 2021 Last updated: Mar 04, 2023 |
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Benign
(Apr 14, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV003257644.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 14, 2024 |
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Germline Functional Evidence
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 germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Efficacy of piroxicam for postoperative pain after lower third molar surgery associated with CYP2C8*3 and CYP2C9. | 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=6039e036-c0aa-4249-af50-115f49ad758a | - | - | - | - |
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Text-mined citations for rs9332131 ...
HelpRecord last updated Feb 14, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.