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

Germline classification:: Pathogenic; drug response (2 submissions)
Last evaluated:: Aug 31, 2010
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000054531.14

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:: Warfarin response
Synonyms:: COUMARIN SENSITIVITY; COUMARIN, POOR METABOLISM OF; WARFARIN RESISTANCE; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007390; MedGen: C0750384; OMIM: 122700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000083009	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2008)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000889936	Pharmacogenomics Lab, Chungbuk National University	no assertion criteria provided	drug response (Aug 31, 2010) Condition: Warfarin response Drug reported used for: hemorrhage	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000083009

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2008)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000889936

Pharmacogenomics Lab, Chungbuk National University

no assertion criteria provided

drug response
(Aug 31, 2010)
Condition: Warfarin response
Drug reported used for: hemorrhage

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	no	140	not provided	not provided	not provided	not provided	research

Citations

PubMed

VKORC1 polymorphisms, haplotypes and haplotype groups on warfarin dose among African-Americans and European-Americans.

Limdi NA, Beasley TM, Crowley MR, Goldstein JA, Rieder MJ, Flockhart DA, Arnett DK, Acton RT, Liu N.

Pharmacogenomics. 2008 Oct;9(10):1445-58. doi: 10.2217/14622416.9.10.1445.

PubMed [citation]

PMID:: 18855533
PMCID:: PMC2586955

Details of each submission

From OMIM, SCV000083009.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Among 273 African Americans and 302 European Americans undergoing warfarin therapy, Limdi et al. (2008) found that variation in the VKORC1 gene could explain 5% and 18% variability, respectively, in warfarin dosage. Two SNPs in the VKORC1 gene, rs9934438 and rs9923231 (608547.0006), were the best predictors of warfarin dose among both groups.

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

From Pharmacogenomics Lab, Chungbuk National University, SCV000889936.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	140	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	no	not provided	not provided	not provided		140	not provided	not provided	not provided

Last Updated: Apr 20, 2024

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