NM_024006.6(VKORC1):c.203A>G (p.His68Arg) AND Vitamin K-dependent clotting factors, combined deficiency of, 2

Clinical significance:Benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001120429.1

Allele description [Variation Report for NM_024006.6(VKORC1):c.203A>G (p.His68Arg)]

NM_024006.6(VKORC1):c.203A>G (p.His68Arg)

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.203A>G (p.His68Arg)
HGVS:
  • NC_000016.10:g.31093392T>C
  • NG_011564.1:g.6564A>G
  • NM_001311311.2:c.203A>G
  • NM_024006.6:c.203A>GMANE SELECT
  • NM_206824.3:c.173+1165A>G
  • NP_001298240.1:p.His68Arg
  • NP_076869.1:p.His68Arg
  • LRG_582t1:c.203A>G
  • LRG_582:g.6564A>G
  • LRG_582p1:p.His68Arg
  • NC_000016.9:g.31104713T>C
  • NM_024006.5:c.203A>G
Protein change:
H68R
Links:
Molecular consequence:
  • NM_206824.3:c.173+1165A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001311311.2:c.203A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024006.6:c.203A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Vitamin K-dependent clotting factors, combined deficiency of, 2 (VKCFD2)
Identifiers:
MONDO: MONDO:0011837; MedGen: C1843832; Orphanet: 98434; OMIM: 607473

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001278913Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Polymorphisms in vitamin K-dependent gamma-carboxylation-related genes influence interindividual variability in plasma protein C and protein S activities in the general population.

Kimura R, Kokubo Y, Miyashita K, Otsubo R, Nagatsuka K, Otsuki T, Sakata T, Nagura J, Okayama A, Minematsu K, Naritomi H, Honda S, Sato K, Tomoike H, Miyata T.

Int J Hematol. 2006 Dec;84(5):387-97.

PubMed [citation]
PMID:
17189218

VKORC1 gene variations are the major contributors of variation in warfarin dose in Japanese patients.

Obayashi K, Nakamura K, Kawana J, Ogata H, Hanada K, Kurabayashi M, Hasegawa A, Yamamoto K, Horiuchi R.

Clin Pharmacol Ther. 2006 Aug;80(2):169-78.

PubMed [citation]
PMID:
16890578

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001278913.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Oct 24, 2021

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