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NM_024006.6(VKORC1):c.*134G>A

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Interpretation:
drug response​

Review status:
reviewed by expert panel
Submissions:
4 (Most recent: Feb 20, 2020)
Last evaluated:
Dec 11, 2017
Accession:
VCV000226016.3
Variation ID:
226016
Description:
single nucleotide variant
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NM_024006.6(VKORC1):c.*134G>A

Allele ID
227783
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p11.2
Genomic location
16: 31091000 (GRCh38) GRCh38 UCSC
16: 31102321 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.9:g.31102321C>T
NC_000016.10:g.31091000C>T
NG_011564.1:g.8956G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:31090999:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.41973 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.39468
The Genome Aggregation Database (gnomAD) 0.39481
The Genome Aggregation Database (gnomAD) 0.39850
1000 Genomes Project 0.41973
Links
PharmGKB Clinical Annotation: 1445585748
PharmGKB Clinical Annotation: 655384733
ClinGen: CA10576177
dbSNP: rs7294
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
drug response 1 reviewed by expert panel Aug 19, 2015 RCV000211189.2
drug response 1 reviewed by expert panel Dec 11, 2017 RCV000211278.2
drug response 1 reviewed by expert panel Aug 19, 2015 RCV000211362.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000295118.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
VKORC1 - - GRCh38
GRCh37
42 67

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
drug response
(Aug 19, 2015)
reviewed by expert panel
Method: curation
acenocoumarol response - Dosage
Allele origin: germline
PharmGKB
Accession: SCV000268387.3
Submitted: (Jun 18, 2018)
Evidence details
Publications
PubMed (1)
Other databases
https://www.pharmgkb.org/clinica…
Comment:
PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) … (more)
drug response
(Dec 11, 2017)
reviewed by expert panel
Method: curation
warfarin response - Dosage
Allele origin: germline
PharmGKB
Accession: SCV000268386.3
Submitted: (Jun 18, 2018)
Evidence details
Publications
PubMed (20)
Other databases
https://www.pharmgkb.org/clinica…
Comment:
PharmGKB Level of Evidence 1B: Annotation for a variant-drug combination where the preponderance of evidence shows an association. The association must be replicated in more … (more)
drug response
(Aug 19, 2015)
reviewed by expert panel
Method: curation
phenprocoumon response - Dosage
Allele origin: germline
PharmGKB
Accession: SCV000268388.3
Submitted: (Jun 18, 2018)
Evidence details
Publications
PubMed (1)
Other databases
https://www.pharmgkb.org/clinica…
Comment:
PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Vitamin K-dependent clotting factors, combined deficiency of, 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000396617.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Warfarin dosage response related pharmacogenetics in Chinese population. Li S PloS one 2015 PMID: 25594941
An acenocoumarol dosing algorithm exploiting clinical and genetic factors in South Indian (Dravidian) population. Krishna Kumar D European journal of clinical pharmacology 2015 PMID: 25519826
A pharmacogenetics-based warfarin maintenance dosing algorithm from Northern Chinese patients. Chen J PloS one 2014 PMID: 25126975
Methodological issues in the development of a pharmacogenomic algorithm for warfarin dosing: comparison of two regression approaches. Pavani A Pharmacogenomics 2014 PMID: 25084205
Effect of CYP2C9, VKORC1, CYP4F2 and GGCX genetic variants on warfarin maintenance dose and explicating a new pharmacogenetic algorithm in South Indian population. Krishna Kumar D European journal of clinical pharmacology 2014 PMID: 24019055
Warfarin anticoagulant therapy: a Southern Italy pharmacogenetics-based dosing model. Mazzaccara C PloS one 2013 PMID: 23990957
Influence of ORM1 polymorphisms on the maintenance stable warfarin dosage. Wang LS European journal of clinical pharmacology 2013 PMID: 23208322
Retrospective evidence for clinical validity of expanded genetic model in warfarin dose optimization in a South Indian population. Pavani A Pharmacogenomics 2012 PMID: 22676192
A new warfarin dosing algorithm including VKORC1 3730 G > A polymorphism: comparison with results obtained by other published algorithms. Cini M European journal of clinical pharmacology 2012 PMID: 22349464
Novel CYP2C9 and VKORC1 gene variants associated with warfarin dosage variability in the South African black population. Mitchell C Pharmacogenomics 2011 PMID: 21635147
Proposal of pharmacogenetics-based warfarin dosing algorithm in Korean patients. Choi JR Journal of human genetics 2011 PMID: 21326313
Genetic variation of VKORC1 and CYP4F2 genes related to warfarin maintenance dose in patients with myocardial infarction. Kringen MK Journal of biomedicine & biotechnology 2011 PMID: 21127708
CYP4F2 rs2108622: a minor significant genetic factor of warfarin dose in Han Chinese patients with mechanical heart valve replacement. Cen HJ British journal of clinical pharmacology 2010 PMID: 20653676
Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population. Lubitz SA Journal of thrombosis and haemostasis : JTH 2010 PMID: 20128861
Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European-Americans and African-Americans. Limdi NA Pharmacogenomics 2008 PMID: 18466099
Genotypes of vitamin K epoxide reductase, gamma-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients. Kimura R Thrombosis research 2007 PMID: 17049586
The influence of sequence variations in factor VII, gamma-glutamyl carboxylase and vitamin K epoxide reductase complex genes on warfarin dose requirement. Herman D Thrombosis and haemostasis 2006 PMID: 16676068
Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation. Li T Journal of medical genetics 2006 PMID: 16611750
VKORC1 haplotypes and their impact on the inter-individual and inter-ethnical variability of oral anticoagulation. Geisen C Thrombosis and haemostasis 2005 PMID: 16270629
Common VKORC1 and GGCX polymorphisms associated with warfarin dose. Wadelius M The pharmacogenomics journal 2005 PMID: 15883587
A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin. D'Andrea G Blood 2005 PMID: 15358623
https://www.pharmgkb.org/clinicalAnnotation/1445585748 - - - -
https://www.pharmgkb.org/clinicalAnnotation/655384733 - - - -

Text-mined citations for rs7294...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021