NM_000078.2(CETP):c.658+186C>A AND HMG CoA reductase inhibitors response - Efficacy

Clinical significance:drug response (Last evaluated: Jul 11, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211241.1

Allele description [Variation Report for NM_000078.2(CETP):c.658+186C>A]

NM_000078.2(CETP):c.658+186C>A

Gene:
CETP:cholesteryl ester transfer protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_000078.2(CETP):c.658+186C>A
HGVS:
  • NC_000016.10:g.56971567C>A
  • NG_008952.1:g.14645C>A
  • NM_000078.2:c.658+186C>A
  • NC_000016.9:g.57005479C>A
Links:
PharmGKB Clinical Annotation: 1183700488; dbSNP: rs1532624
NCBI 1000 Genomes Browser:
rs1532624
Molecular consequence:
  • NM_000078.2:c.658+186C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
HMG CoA reductase inhibitors response - Efficacy
Identifiers:
MedGen: CN236511

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268194PharmGKBreviewed by expert panel
drug response
(Jul 11, 2016)
Condition: hmg coa reductase inhibitors response - Efficacy
Drug reported used for: Hyperlipidemias
germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268194

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Single nucleotide polymorphisms in genes that are associated with a modified response to statin therapy: the Rotterdam Study.

de Keyser CE, Eijgelsheim M, Hofman A, Sijbrands EJ, Maitland-van der Zee AH, van Duijn CM, Uitterlinden AG, Witteman JC, Ch Stricker BH.

Pharmacogenomics J. 2011 Feb;11(1):72-80. doi: 10.1038/tpj.2010.11. Epub 2010 Mar 2.

PubMed [citation]
PMID:
20195290

Pharmacogenomics knowledge for personalized medicine.

Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl K, Thorn CF, Altman RB, Klein TE.

Clin Pharmacol Ther. 2012 Oct;92(4):414-7. doi: 10.1038/clpt.2012.96. Review.

PubMed [citation]
PMID:
22992668
PMCID:
PMC3660037

Details of each submission

From PharmGKB, SCV000268194.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.

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

Last Updated: Mar 30, 2019

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