NM_024006.6(VKORC1):c.173+324T>G AND warfarin response - Dosage - ClinVar

NM_024006.6(VKORC1):c.173+324T>G AND warfarin 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:: RCV000211273.3

Allele description [Variation Report for NM_024006.6(VKORC1):c.173+324T>G]

NM_024006.6(VKORC1):c.173+324T>G

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.173+324T>G

HGVS:

NC_000016.10:g.31094233A>C
NG_011564.1:g.5723T>G
NM_001311311.2:c.173+324T>G
NM_024006.6:c.173+324T>GMANE SELECT
NM_206824.3:c.173+324T>G
LRG_582t1:c.173+324T>G
LRG_582:g.5723T>G
NC_000016.9:g.31105554A>C

Links:

PharmGKB: 982035703; PharmGKB: 982035703PA451906; PharmGKB Clinical Annotation: 982035703; dbSNP: rs2884737

NCBI 1000 Genomes Browser:

rs2884737

Molecular consequence:

NM_001311311.2:c.173+324T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_024006.6:c.173+324T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_206824.3:c.173+324T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: warfarin response - Dosage
Identifiers:: MedGen: CN322729

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000268280	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Mar 24, 2021) Condition: warfarin response - Dosage	germline	curation	PubMed (6) [See all records that cite these PMIDs] 16611750, 18030307, 18322281, 20072124, 24019055, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000268280

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(Mar 24, 2021)
Condition: warfarin response - Dosage

germline

curation

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation.

Li T, Lange LA, Li X, Susswein L, Bryant B, Malone R, Lange EM, Huang TY, Stafford DW, Evans JP.

J Med Genet. 2006 Sep;43(9):740-4. Epub 2006 Apr 12.

PubMed [citation]

PMID:: 16611750
PMCID:: PMC2564574

Combination of phenotype assessments and CYP2C9-VKORC1 polymorphisms in the determination of warfarin dose requirements in heavily medicated patients.

Michaud V, Vanier MC, Brouillette D, Roy D, Verret L, Noel N, Taillon I, O'Hara G, Gossard D, Champagne M, Goodman K, Renaud Y, Brown A, Phillips M, Ajami AM, Turgeon J.

Clin Pharmacol Ther. 2008 May;83(5):740-8. Epub 2007 Nov 14.

PubMed [citation]

PMID:: 18030307

See all PubMed Citations (6)

Details of each submission

From PharmGKB, SCV000268280.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (6)

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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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