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NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu)

Variation ID: Help
2878
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu)

Allele ID:
17917
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.3
Genomic location:
  • Chr1: 55039974 (on Assembly GRCh38)
  • Chr1: 55505647 (on Assembly GRCh37)
Other names:
  • PCSK9, ARG46LEU (rs11591147)
Protein change:
R46L
HGVS:
  • NG_009061.1:g.5428G>T
  • NM_174936.3:c.137G>T
  • NP_777596.2:p.Arg46Leu
  • NC_000001.11:g.55039974G>T (GRCh38)
  • LRG_275t1:c.137G>T
  • NR_110451.1:n.-248G>T
  • NC_000001.10:g.55505647G>T (GRCh37)
  • Q8NBP7:p.Arg46Leu
  • LRG_275p1:p.Arg46Leu
  • LRG_275:g.5428G>T
  • NP_777596.2:p.R46L
Links:
NCBI 1000 Genomes Browser:
rs11591147
Molecular consequence:
  • NM_174936.3:c.137G>T: missense variant SO:0001583
  • NR_110451.1:n.-248G>T: 2KB upstream variant SO:0001636
Allele frequency:
  • 1000 Genomes Project 0.00639 (T)
  • 1000 Genomes Project 0.00639
  • Exome Aggregation Consortium (ExAC) 0.02217
  • The Genome Aggregation Database (gnomAD) 0.01376
  • The Genome Aggregation Database (gnomAD), exomes 0.01202
  • Trans-Omics for Precision Medicine (TOPMed) 0.00971

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
Benign
(Jun 11, 2015)
criteria provided, single submitter
clinical testing
  • Hypercholesterolemia, autosomal dominant, 3[MedGen | OMIM]
unknown
    Division of Genomic Diagnostics,The Children's Hospital of Philadelphia
    Study description
    SCV000258263.2
    Benign
    (Aug 11, 2017)
    criteria provided, single submitter
    clinical testing
    • Hypercholesterolemia, autosomal dominant, 3[MedGen | OMIM]
    germline
      Invitae,SCV000291595.3
      Benign
      (Mar 1, 2016)
      criteria provided, single submitter
      researchgermline
        Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo JorgeSCV000323030.1
        Likely benign
        (Jun 14, 2016)
        criteria provided, single submitter
        clinical testinggermline
          Illumina Clinical Services Laboratory,IlluminaSCV000358213.2
          Uncertain significancecriteria provided, single submitter
          clinical testing
          • Familial hypercholesterolemia (Autosomal dominant inheritance)[MedGen | OMIM]
          germline
            Robarts Research Institute,Western UniversitySCV000484817.1
            Benign
            (Mar 1, 2016)
            criteria provided, single submitter
            researchgermline
              Laboratory of Genetics and Molecular Cardiology,University of São Paulo - HipercolBrasil
              Study description
              SCV000588678.1
              Benign
              (Mar 1, 2016)
              criteria provided, single submitter
              researchgermline
                Fundacion Hipercolesterolemia Familiar - SAFEHEARTSCV000607712.1
                Benign
                (Apr 17, 2017)
                criteria provided, single submitter
                clinical testinggermline
                  ColorSCV000690958.1
                  Benign
                  (May 8, 2017)
                  criteria provided, single submitter
                  clinical testinggermline
                    GeneDxSCV000730049.1
                    association
                    (May 22, 2008)
                    no assertion criteria providedliterature only
                    • Low density lipoprotein cholesterol level quantitative trait locus 1[MedGen]
                    germlineOMIMSCV000023170.1
                    Pathogenicno assertion criteria providedresearchgermline
                      Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch CentrumSCV000606676.1
                      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
                      Total for all submittersnot provided1germline, unknownnot providednot provided
                      Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorgenot providednot providedgermlinenot providednot provided3/100 normolipidemic controls;…Full description
                      Colornot providednot providedgermlinenot providednot providednot providednot provided
                      Division of Genomic Diagnostics,The Children's Hospital of Philadelphianot providednot providedunknownnot providednot providednot providednot provided
                      Fundacion Hipercolesterolemia Familiarnot providednot providedgermlinenot providednot providednot provided
                      GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered lik…Full description
                      Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
                      Invitae,not providednot providedgermlinenot providednot providednot providednot provided
                      Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrumnot providednot providedgermlinenot providednot providednot providednot provided
                      Laboratory of Genetics and Molecular Cardiology,University of São Paulonot providednot providedgermlinenot providednot providednot provided
                      OMIMnot providednot providedgermlinenot providednot providednot provided
                      Robarts Research Institute,Western Universitynot provided1germlinenot providednot providednot providednot provided
                      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

                      Last Updated: Jan 8, 2019

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