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NM_024006.4(VKORC1):c.-1639G>A

Variation ID: Help
2211
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_024006.4(VKORC1):c.-1639G>A

Allele ID:
17250
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
  • Chr16: 31096368 (on Assembly GRCh38)
  • Chr16: 31107689 (on Assembly GRCh37)
Other names:
  • VKORC1, -1639G-A (rs9923231)
  • -1639G>A
HGVS:
  • NG_011564.1:g.3588G>A
  • NM_024006.5:c.-1639G>A
  • NC_000016.10:g.31096368C>T (GRCh38)
  • NC_000016.9:g.31107689C>T (GRCh37)
  • NM_024006.4:c.-1639G>A
  • NM_024006.5:c.-226-1413G>A
Links:
NCBI 1000 Genomes Browser:
rs9923231
Molecular consequence:
  • NM_024006.5:c.-1639G>A: 2KB upstream variant SO:0001636
  • NM_024006.5:c.-226-1413G>A: intron variant SO:0001627
Allele frequency:
  • 1000 Genomes Project 0.35563 (T)
  • 1000 Genomes Project 0.35563
  • The Genome Aggregation Database (gnomAD) 0.32643
  • Trans-Omics for Precision Medicine (TOPMed) 0.33619

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
other
(Aug 8, 2018)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000331715.3
Likely benign
(Mar 9, 2018)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000724152.1
    drug response
    (Nov 3, 2012)
    no assertion criteria providedliterature onlygermlineOMIMSCV000022453.1
    drug response
    (Dec 16, 2006)
    no assertion criteria providedclinical testinggermline
      Laboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000202013.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submitters254738germlinenot providednot provided
      EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided481germlinenot providednot providedVariant classified as "other r…Full description
      GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered lik…Full description
      Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine254257germlinenot providednot providednot providednot provided
      OMIMnot providednot providedgermlinenot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Mar 31, 2019

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