NM_000277.2(PAH):c.782G>A (p.Arg261Gln)

Variation ID: Help
582
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000277.2(PAH):c.782G>A (p.Arg261Gln)

Allele ID:
15621
Variant type:
single nucleotide variant
Cytogenetic location:
12q23
Genomic location:
  • Chr12: 102852875 (on Assembly GRCh38)
  • Chr12: 103246653 (on Assembly GRCh37)
Other names:
  • p.R261Q:CGA>CAA
Protein change:
R261Q
HGVS:
  • NG_008690.2:g.110536G>A
  • NM_000277.2:c.782G>A
  • NP_000268.1:p.Arg261Gln
  • NC_000012.12:g.102852875C>T (GRCh38)
  • NC_000012.11:g.103246653C>T (GRCh37)
  • NG_008690.1:g.69728G>A
  • NM_000277.1:c.782G>A
  • P00439:p.Arg261Gln
Links:
NCBI 1000 Genomes Browser:
rs5030849
Molecular consequence:
NM_000277.2:c.782G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00054 (T)
  • GMAF 0.00020 (T)
  • ExAC 0.00027 (T)

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
Pathogenic
(Jan 25, 2016)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000110386.6
Pathogenic
(Sep 21, 2016)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000239072.11
    Pathogenic
    (Dec 4, 2014)
    criteria provided, single submitter
    clinical testingde novo
      Center for Pediatric Genomic Medicine,Children's Mercy Hospital and ClinicsSCV000281282.1
      Likely pathogenic
      (Dec 3, 2015)
      criteria provided, single submitter
      clinical testingunknown
        CounsylSCV000485131.1
        Pathogenic
        (Aug 15, 2007)
        no assertion criteria providedliterature onlygermlineOMIMSCV000020762.3
        Pathogenic
        (Oct 20, 2016)
        no assertion criteria providedliterature onlygermlineGeneReviewsSCV000324888.1
        not providedno assertion providedliterature onlynot provided
          DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTESCV000119697.1
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot provided16de novo, germline, not provided, unknownnot providednot provided
          Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicsnot providednot providedde novonot providednot providednot providednot provided
          Counsylnot providednot providedunknownnot providednot providednot providednot provided
          DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTEnot providednot providednot providednot providednot providednot providednot provided
          EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided16germlinenot providednot providednot providednot provided
          GeneDxnot providednot providedgermlinenot providednot providednot providedThe R261Q missense variant in …Full description
          GeneReviewsnot providednot providedgermlinenot providednot providednot provided
          OMIMnot providednot providedgermlinenot providednot providednot provided
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: Sep 28, 2017