NM_016203.3(PRKAG2):c.905G>A (p.Arg302Gln)

Variation ID: Help
6846
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_016203.3(PRKAG2):c.905G>A (p.Arg302Gln)

Allele ID:
21885
Variant type:
single nucleotide variant
Cytogenetic location:
7q36
Genomic location:
  • Chr7: 151576412 (on Assembly GRCh38)
  • Chr7: 151273498 (on Assembly GRCh37)
Other names:
  • p.R302Q:CGA>CAA
Protein change:
R302Q
HGVS:
  • NG_007486.1:g.305819G>A
  • NM_016203.3:c.905G>A
  • NP_057287.2:p.Arg302Gln
  • NC_000007.14:g.151576412C>T (GRCh38)
  • NC_000007.13:g.151273498C>T (GRCh37)
  • Q9UGJ0:p.Arg302Gln
Links:
NCBI 1000 Genomes Browser:
rs121908987
Molecular consequence:
NM_016203.3:c.905G>A: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_016203.3(PRKAG2):c.905G>A (p.Arg302Gln)

GRCh37 Chr7:151273498
Called variantsPotential variants
Sample countno data0 of 44561

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
Pathogenic
(Mar 10, 2015)
criteria provided, single submitter
clinical testinggermlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000062638.4
Pathogenic
(Feb 3, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000208946.7
    Pathogenic
    (Sep 15, 2016)
    criteria provided, single submitter
    clinical testinggermline
      InvitaeSCV000551577.1
      Pathogenic
      (Aug 18, 2014)
      no assertion criteria providedclinical testing
      • Familial hypertrophic cardiomyopathy 6[MedGen | OMIM]
      germline
        Blueprint GeneticsSCV000188821.2
        Pathogenic
        (Feb 1, 2002)
        no assertion criteria providedliterature onlygermlineOMIMSCV000027444.2
        Pathogenic
        (Feb 1, 2002)
        no assertion criteria providedliterature only
        • Familial hypertrophic cardiomyopathy 6 (Autosomal dominant inheritance)[MedGen | OMIM]
        germlineOMIMSCV000027445.2
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submitters1115germlinenot providednot provided
        Blueprint Geneticsnot provided2germlinenot providednot providednot provided
        GeneDxnot providednot providedgermlinenot providednot providednot providedThe R302Q variant in the PRKAG…Full description
        Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
        Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine1113germlinenot providednot providedThe p.Arg302Gln variant has be…Full description
        OMIMnot providednot providedgermlinenot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Jun 24, 2017