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NM_000015.3(NAT2):c.282C>T (p.Tyr94=) AND ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR

Germline classification:
drug response (1 submission)
Last evaluated:
Oct 27, 2017
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000417176.1

Allele description

NM_000015.3(NAT2):c.282C>T (p.Tyr94=)

Gene:
NAT2:N-acetyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p22
Genomic location:
Preferred name:
NM_000015.3(NAT2):c.282C>T (p.Tyr94=)
HGVS:
  • NC_000008.11:g.18400285C>T
  • NG_012246.1:g.14041C>T
  • NM_000015.3:c.282C>TMANE SELECT
  • NP_000006.2:p.Tyr94=
  • NC_000008.10:g.18257795C>T
Links:
PharmGKB: 1447964041; dbSNP: rs1041983
NCBI 1000 Genomes Browser:
rs1041983
Molecular consequence:
  • NM_000015.3:c.282C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR
Identifiers:
MedGen: CN240588

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000494676PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)		drug response
(Oct 27, 2017)
Condition: ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR
Drug reported used for: Tuberculosis		germlinecuration

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000494676

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Association of slow N-acetyltransferase 2 profile and anti-TB drug-induced hepatotoxicity in patients from Southern Brazil.

Possuelo LG, Castelan JA, de Brito TC, Ribeiro AW, Cafrune PI, Picon PD, Santos AR, Teixeira RL, Gregianini TS, Hutz MH, Rossetti ML, Zaha A.

Eur J Clin Pharmacol. 2008 Jul;64(7):673-81. doi: 10.1007/s00228-008-0484-8. Epub 2008 Apr 18.

PubMed [citation]
PMID:
18421452

NAT2 and CYP2E1 polymorphisms associated with antituberculosis drug-induced hepatotoxicity in Chinese patients.

An HR, Wu XQ, Wang ZY, Zhang JX, Liang Y.

Clin Exp Pharmacol Physiol. 2012 Jun;39(6):535-43. doi: 10.1111/j.1440-1681.2012.05713.x.

PubMed [citation]
PMID:
22506592
See all PubMed Citations (4)

Details of each submission

From PharmGKB, SCV000494676.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (4)

Description

PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.

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

Last Updated: Nov 2, 2019