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CYP2C9*6 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:
RCV000788096.2

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000927094Medical 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

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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, SCV000927094.1

#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: Feb 14, 2024