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

Variation ID: Help
16916
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
drug response
Last evaluated:
Feb 23, 2018
Number of submission(s):
3
Condition(s):
  • CYP3A4 PROMOTER POLYMORPHISM
  • Cyp3a4-v
  • tacrolimus response - Dosage [MedGen]
See supporting ClinVar records

Allele(s) Help

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

Allele ID:
31955
Variant type:
single nucleotide variant
Cytogenetic location:
7q22
Genomic location:
  • Chr7: 99784473 (on Assembly GRCh38)
  • Chr7: 99382096 (on Assembly GRCh37)
Other names:
  • CYP3A4, a-g PROMOTER
HGVS:
  • NG_008421.1:g.4713G>A
  • NM_017460.5:c.-392G>A
  • NC_000007.14:g.99784473C>T (GRCh38)
  • NC_000007.13:g.99382096C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs2740574
Molecular consequence:
NM_017460.5:c.-392G>A: 2KB upstream variant [Sequence Ontology SO:0001636]
Allele frequency:
  • 1000 Genomes Project 0.23083 (C)
  • 1000 Genomes Project 0.76917
  • The Genome Aggregation Database (gnomAD) 0.79165
  • Trans-Omics for Precision Medicine (TOPMed) 0.77731

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Benign
(Jun 1, 2002)
no assertion criteria providedliterature only
  • CYP3A4 PROMOTER POLYMORPHISM
germlineOMIMSCV000038699.2
Benign
(May 18, 2015)
no assertion criteria providedliterature only
  • Cyp3a4-v
germlineOMIMSCV000038700.2

PGx

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
drug response
(Feb 23, 2018)
reviewed by expert panel
curationCondition: tacrolimus response - Dosage
  • Drug reported used for: Organ Transplantation[MedGen]
germlinePharmGKBSCV000268281.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermlinenot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
PharmGKBnot providednot providedgermlinenot providednot providedPharmGKB Level of Evidence 2A:…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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