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NM_052968.4(APOA5):c.-644C>T

Variation ID: Help
548114
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
drug response
Last evaluated:
May 14, 2018
Number of submission(s):
3
Condition(s):
  • atorvastatin response - Efficacy [MedGen]
  • simvastatin response - Efficacy [MedGen]
  • lovastatin response - Efficacy
See supporting ClinVar records

Allele(s) Help

NM_052968.4(APOA5):c.-644C>T

Allele ID:
538603
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
  • Chr11: 116792991 (on Assembly GRCh38)
  • Chr11: 116663707 (on Assembly GRCh37)
HGVS:
  • NG_015894.1:g.4430C>T
  • NM_052968.4:c.-644C>T
  • NC_000011.10:g.116792991G>A (GRCh38)
  • NC_000011.9:g.116663707G>A (GRCh37)
Links:
dbSNP: rs662799
NCBI 1000 Genomes Browser:
rs662799
Allele frequency:
  • 1000 Genomes Project 0.16294 (G)
  • 1000 Genomes Project 0.83706
  • The Genome Aggregation Database (gnomAD) 0.89968
  • Trans-Omics for Precision Medicine (TOPMed) 0.89593

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

PGx

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
drug response
(May 14, 2018)
reviewed by expert panel
curationCondition: atorvastatin response - Efficacy
  • Drug reported used for: Coronary Disease[MedGen]
  • Drug reported used for: Coronary Disease;Myocardial Infarction
  • Drug reported used for: Coronary Disease;Hyperlipidemias
  • Drug reported used for: Hyperlipidemias[MedGen | Orphanet]
germlinePharmGKBSCV000783082.1
drug response
(May 14, 2018)
reviewed by expert panel
curationCondition: lovastatin response - Efficacy
germlinePharmGKBSCV000783083.1
drug response
(May 14, 2018)
reviewed by expert panel
curationCondition: simvastatin response - Efficacy
  • Drug reported used for: Hypercholesterolemia[MedGen]
  • Drug reported used for: Hyperlipidemias[MedGen | Orphanet]
germlinePharmGKBSCV000783084.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
PharmGKBnot providednot providedgermlinenot providednot providedPharmGKB Level of Evidence 2B:…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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