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NM_001130089.1(KARS):c.1262G>A (p.Arg421Gln)

Variation ID: Help
439842
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001130089.1(KARS):c.1262G>A (p.Arg421Gln)

Allele ID:
433648
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.1
Genomic location:
  • Chr16: 75631490 (on Assembly GRCh38)
  • Chr16: 75665388 (on Assembly GRCh37)
Protein change:
R421Q
HGVS:
  • NG_028025.1:g.21198G>A
  • NM_001130089.1:c.1262G>A
  • NP_001123561.1:p.Arg421Gln
  • NC_000016.10:g.75631490C>T (GRCh38)
  • LRG_366t1:c.1262G>A
  • NC_000016.9:g.75665388C>T (GRCh37)
  • LRG_366p1:p.Arg421Gln
  • LRG_366:g.21198G>A
Links:
NCBI 1000 Genomes Browser:
rs149772470
Molecular consequence:
NM_001130089.1:c.1262G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00020 (T)
  • 1000 Genomes Project 0.00020
  • Exome Aggregation Consortium (ExAC) 0.00138
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00139
  • The Genome Aggregation Database (gnomAD) 0.00152
  • The Genome Aggregation Database (gnomAD), exomes 0.00136
  • Trans-Omics for Precision Medicine (TOPMed) 0.00186

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
Uncertain significance
(Jun 5, 2017)
criteria provided, single submitter
clinical testinggermline
    ARUP Laboratories, Molecular Genetics and Genomics,ARUP LaboratoriesSCV000604056.2
    Likely benign
    (Apr 13, 2017)
    criteria provided, single submitter
    clinical testinggermline
      Laboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000711643.1
      Uncertain significance
      (Sep 14, 2017)
      criteria provided, single submitter
      clinical testinggermline
        DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center - VKGL Data-share ConsensusSCV000745165.1
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submitters11germlinenot providednot provided
        ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriesnot providednot providedgermlinenot providednot providednot providedThe p.Arg421Gln variant (rs149…Full description
        DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Centernot providednot providedgermlinenot providednot providednot providednot provided
        Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine11germlinenot providednot providednot providedp.Arg421Gln in exon 10 of KARS…Full description
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: May 27, 2019

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