NM_017460.5(CYP3A4):c.-392G>A AND tacrolimus response - Dosage

Clinical significance:drug response (Last evaluated: Feb 23, 2018)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211361.1

Allele description [Variation Report for NM_017460.5(CYP3A4):c.-392G>A]

NM_017460.5(CYP3A4):c.-392G>A

Genes:
CYP3A4:cytochrome P450 family 3 subfamily A member 4 [Gene - OMIM - HGNC]
LOC110366354:CYP3A4 5' regulatory region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_017460.5(CYP3A4):c.-392G>A
Other names:
CYP3A4, a-g PROMOTER
HGVS:
  • NC_000007.14:g.99784473C>T
  • NG_008421.1:g.4713G>A
  • NM_017460.5:c.-392G>A
  • NC_000007.13:g.99382096C>T
Links:
PharmGKB Clinical Annotation: 655387058; OMIM: 124010.0001; dbSNP: rs2740574
NCBI 1000 Genomes Browser:
rs2740574
Molecular consequence:
  • NM_017460.5:c.-392G>A - 2KB upstream variant - [Sequence Ontology: SO:0001636]

Condition(s)

Name:
tacrolimus response - Dosage
Identifiers:
MedGen: CN236545

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268281PharmGKBreviewed by expert panel
drug response
(Feb 23, 2018)
Condition: tacrolimus response - Dosage
Drug reported used for: Organ Transplantation
germlinecuration

PubMed (12)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268281

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Genetic polymorphisms of the CYP3A4, CYP3A5, and MDR-1 genes and pharmacokinetics of the calcineurin inhibitors cyclosporine and tacrolimus.

Hesselink DA, van Schaik RH, van der Heiden IP, van der Werf M, Gregoor PJ, Lindemans J, Weimar W, van Gelder T.

Clin Pharmacol Ther. 2003 Sep;74(3):245-54.

PubMed [citation]
PMID:
12966368

CYP3A5 and CYP3A4 but not MDR1 single-nucleotide polymorphisms determine long-term tacrolimus disposition and drug-related nephrotoxicity in renal recipients.

Kuypers DR, de Jonge H, Naesens M, Lerut E, Verbeke K, Vanrenterghem Y.

Clin Pharmacol Ther. 2007 Dec;82(6):711-25. Epub 2007 May 9.

PubMed [citation]
PMID:
17495880
See all PubMed Citations (12)

Details of each submission

From PharmGKB, SCV000268281.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (12)

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: Mar 30, 2019

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