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CYP2C9*3 AND Lesinurad 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:
RCV000788094.10

Allele description [Variation Report for CYP2C9*3]

CYP2C9*3

Gene:
CYP2C9:cytochrome P450 family 2 subfamily C member 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
CYP2C9*3
Other names:
NM_000771.3(CYP2C9):c.1075A>C (p.Ile359Leu); CYP2C9, ILE359LEU (rs1057910); 1075A>C
HGVS:
  • NC_000010.11:g.94981296A>C
  • NG_008385.2:g.48139A>C
  • NM_000771.4:c.1075A>CMANE SELECT
  • NP_000762.2:p.Ile359Leu
  • LRG_1195t1:c.1075A>C
  • LRG_1195:g.48139A>C
  • LRG_1195p1:p.Ile359Leu
  • NC_000010.10:g.96741053A>C
  • NG_008385.1:g.47639A>C
  • NM_000771.3:c.1075A>C
  • P11712:p.Ile359Leu
Protein change:
I359L; Ile359Leu
Links:
Medical Genetics Summaries: CYP2C9*3; PharmGKB Clinical Annotation: 655384720; PharmGKB Clinical Annotation: 769181841; PharmGKB Clinical Annotation: 827862258; PharmGKB Clinical Annotation: 981238437; UniProtKB: P11712#VAR_008345; OMIM: 601130.0001; dbSNP: rs1057910
NCBI 1000 Genomes Browser:
rs1057910
Molecular consequence:
  • NM_000771.4:c.1075A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lesinurad response
Synonyms:
Zurampic response
Identifiers:
MedGen: CN248784

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000927092Medical Genetics Summaries
criteria provided, single submitter

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

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Lesinurad Therapy and CYP2C9 Genotype.

Dean L.

2019 Feb 11. In: Pratt VM, Scott SA, Pirmohamed M, Esquivel B, Kattman BL, Malheiro AJ, editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012-.

PubMed [citation]
PMID:
30742400

Details of each submission

From Medical Genetics Summaries, SCV000927092.1

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

Description

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.

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

Last Updated: May 26, 2024