NM_000130.4(F5):c.1601G>A (p.Arg534Gln)

Variation ID: Help
642
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000130.4(F5):c.1601G>A (p.Arg534Gln)

Allele ID:
15681
Variant type:
single nucleotide variant
Cytogenetic location:
1q24
Genomic location:
  • Chr1: 169549811 (on Assembly GRCh38)
  • Chr1: 169519049 (on Assembly GRCh37)
Other names:
  • F5, ARG506GLN
  • F5:c.1601G>A (p.Arg534Gln)
  • factor V Leiden
Protein change:
R506Q, R534Q
HGVS:
  • NG_011806.1:g.41721G>A
  • NM_000130.4:c.1601G>A
  • NP_000121.2:p.Arg534Gln
  • NC_000001.11:g.169549811C>T (GRCh38)
  • LRG_553t1:c.1601G>A
  • NC_000001.10:g.169519049T= (GRCh37)
  • NG_011806.1:c.1601G>A
  • P12259:p.Arg534Gln
  • LRG_553p1:p.Arg534Gln
  • LRG_553:g.41721G>A
Links:
NCBI 1000 Genomes Browser:
rs6025
Molecular consequence:
NM_000130.4:c.1601G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.02137 (T)
  • GMAF 0.00600 (T)
  • ExAC 0.02150 (T)

Variant frequency in dbGaP Help

NM_000130.4(F5):c.1601G>A (p.Arg534Gln)

GRCh37 Chr1:169519049
Called variantsPotential variants
Sample countno data2082 of 40832

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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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
Benign
(Jan 9, 2017)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000262346.3
    Pathogenic
    (Mar 30, 2016)
    criteria provided, single submitter
    clinical testing
    • Thrombophilia due to activated protein C resistance[MedGen | OMIM]
    germline
      Knight Diagnostic Laboratories,Oregon Health and Sciences University - CSER-NextGenSCV000538025.1
      Pathogenic
      (Jun 15, 2006)
      no assertion criteria providedliterature only
      • Thrombophilia due to factor V Leiden[MedGen]
      germlineOMIMSCV000020824.1
      risk factor
      (Jun 15, 2006)
      no assertion criteria providedliterature only
      • Ischemic stroke, susceptibility to
      germlineOMIMSCV000020825.1
      risk factor
      (Jun 15, 2006)
      no assertion criteria providedliterature only
      • Budd-Chiari syndrome, susceptibility to
      germlineOMIMSCV000020826.1
      risk factor
      (Jun 15, 2006)
      no assertion criteria providedliterature onlygermlineOMIMSCV000045226.1
      not provided
      (Jan 7, 2016)
      no assertion providedclinical testinggermlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000271297.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submitters44germlinenot providednot provided
      Invitaenot providednot providedgermlinenot providednot providednot providednot provided
      Knight Diagnostic Laboratories,Oregon Health and Sciences Universitynot providednot providedgermlinenot providednot providednot providedThe c.1601G>A (p.Arg534Gln) mi…Full description
      Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine44germlinenot providednot providedThe p.Arg534Gln variant (previ…Full description
      OMIMnot providednot providedgermlinenot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: May 7, 2017