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NM_000283.3(PDE6B):c.892C>T (p.Gln298Ter)

Variation ID: Help
13103
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000283.3(PDE6B):c.892C>T (p.Gln298Ter)

Allele ID:
28142
Variant type:
single nucleotide variant
Cytogenetic location:
4p16
Genomic location:
  • Chr4: 654119 (on Assembly GRCh38)
  • Chr4: 647908 (on Assembly GRCh37)
Protein change:
Q298*
HGVS:
  • NG_009839.1:g.33546C>T
  • NM_000283.3:c.892C>T
  • NP_000274.2:p.Gln298Ter
  • NC_000004.12:g.654119C>T (GRCh38)
  • NC_000004.11:g.647908C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs121918579
Molecular consequence:
NM_000283.3:c.892C>T: nonsense [Sequence Ontology SO:0001587]
Allele frequency:
ExAC 0.00004 (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
(Aug 4, 2014)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000230892.4
Pathogenic
(Apr 27, 2018)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000748208.2
    Pathogenic
    (Jun 1, 1993)
    no assertion criteria providedliterature onlygermlineOMIMSCV000034229.3
    Pathogenic
    (Jan 1, 2015)
    no assertion criteria providedresearchunknownNIHR Bioresource Rare Diseases,University of CambridgeSCV000599145.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot provided2germline, unknownEuropeannot provided
    EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided1germlinenot providednot providednot provided
    GeneDxnot providednot providedgermlinenot providednot providednot providedThe Q298X variant in the PDE6B…Full description
    NIHR Bioresource Rare Diseases,University of Cambridgenot provided1unknownEuropeannot providednot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Nov 3, 2018