Click here to see the new Variation Report design!

NM_000321.2(RB1):c.929G>A (p.Gly310Glu)

Variation ID: Help
237678
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000321.2(RB1):c.929G>A (p.Gly310Glu)

Allele ID:
241748
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.2
Genomic location:
  • Chr13: 48364961 (on Assembly GRCh38)
  • Chr13: 48939097 (on Assembly GRCh37)
Protein change:
G310E
HGVS:
  • NG_009009.1:g.66215G>A
  • NM_000321.2:c.929G>A
  • NP_000312.2:p.Gly310Glu
  • NC_000013.11:g.48364961G>A (GRCh38)
  • LRG_517t1:c.929G>A
  • NC_000013.10:g.48939097G>A (GRCh37)
  • P06400:p.Gly310Glu
  • LRG_517p1:p.Gly310Glu
  • LRG_517:g.66215G>A
Links:
NCBI 1000 Genomes Browser:
rs200844292
Molecular consequence:
NM_000321.2:c.929G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00060
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00016
  • The Genome Aggregation Database (gnomAD) 0.00032
  • The Genome Aggregation Database (gnomAD), exomes 0.00037
  • Trans-Omics for Precision Medicine (TOPMed) 0.00033

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Benign
(Dec 30, 2017)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000284634.4
    Likely benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000384541.2
      Likely benign
      (Mar 28, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Laboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000540156.1
        Likely benign
        (Oct 10, 2017)
        criteria provided, single submitter
        clinical testing
        • Hereditary cancer-predisposing syndrome[MedGen]
        germlineAmbry GeneticsSCV000674709.2
        Likely benign
        (Dec 26, 2017)
        criteria provided, single submitter
        clinical testinggermline
          GeneDxSCV000729719.1
          Likely benign
          (Jul 2, 2018)
          criteria provided, single submitter
          clinical testingunknown
            MendelicsSCV000838920.1
            Uncertain significance
            (Nov 28, 2017)
            criteria provided, single submitter
            clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000858301.1
            SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
            Total for all submittersnot provided2germline, unknownnot providednot provided
            Ambry Geneticsnot provided1germlinenot providednot providedLines of evidence used in supp…Full description
            EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided1germlinenot 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
            Invitaenot providednot providedgermlinenot providednot providednot providednot provided
            Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinenot providednot providedgermlinenot providednot providednot providedVariant identified in a genome…Full description
            Mendelicsnot providednot providedunknownnot providednot providednot providednot provided
            SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

            Last Updated: Mar 31, 2019

            Support Center