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NM_024006.6(VKORC1):c.174-136C>T AND phenprocoumon response - Dosage

Germline classification:
drug response (1 submission)
Last evaluated:
Mar 24, 2021
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:
RCV001787818.10

Allele description [Variation Report for NM_024006.6(VKORC1):c.174-136C>T]

NM_024006.6(VKORC1):c.174-136C>T

Gene:
VKORC1:vitamin K epoxide reductase complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_024006.6(VKORC1):c.174-136C>T
HGVS:
  • NC_000016.10:g.31093557G>A
  • NG_011564.1:g.6399C>T
  • NM_001311311.2:c.174-136C>T
  • NM_024006.6:c.174-136C>TMANE SELECT
  • NM_206824.3:c.173+1000C>T
  • LRG_582t1:c.174-136C>T
  • LRG_582:g.6399C>T
  • NC_000016.9:g.31104878G>A
  • NM_024006.4:c.174-136C>T
Links:
PharmGKB: 1183704228; PharmGKB: 1183704228PA450921; PharmGKB: 1183704228PA452632; PharmGKB: 655385392; PharmGKB: 655385392PA451906; PharmGKB Clinical Annotation: 1183704228; PharmGKB Clinical Annotation: 655385392; OMIM: 608547.0008; dbSNP: rs9934438
NCBI 1000 Genomes Browser:
rs9934438
Molecular consequence:
  • NM_001311311.2:c.174-136C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024006.6:c.174-136C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_206824.3:c.173+1000C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
phenprocoumon response - Dosage
Identifiers:
MedGen: CN322728

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002031260PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)
drug response
(Mar 24, 2021)
Condition: phenprocoumon response - Dosage
germlinecuration

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

A C1173T dimorphism in the VKORC1 gene determines coumarin sensitivity and bleeding risk.

Reitsma PH, van der Heijden JF, Groot AP, Rosendaal FR, Büller HR.

PLoS Med. 2005 Oct;2(10):e312. Epub 2005 Oct 11.

PubMed [citation]
PMID:
16201835
PMCID:
PMC1251635

Genetic determinants of acenocoumarol and phenprocoumon maintenance dose requirements.

Cadamuro J, Dieplinger B, Felder T, Kedenko I, Mueller T, Haltmayer M, Patsch W, Oberkofler H.

Eur J Clin Pharmacol. 2010 Mar;66(3):253-60. doi: 10.1007/s00228-009-0768-7. Epub 2009 Dec 18.

PubMed [citation]
PMID:
20020283
See all PubMed Citations (5)

Details of each submission

From PharmGKB, SCV002031260.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (5)

Description

PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications.

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

Last Updated: Jul 15, 2024