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NM_000283.3(PDE6B):c.2193+1G>A

Variation ID: Help
167440
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.2193+1G>A

Allele ID:
177924
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
  • Chr4: 664945 (on Assembly GRCh38)
  • Chr4: 658734 (on Assembly GRCh37)
HGVS:
  • NG_009839.1:g.44372G>A
  • NM_000283.3:c.2193+1G>A
  • NC_000004.12:g.664945G>A (GRCh38)
  • NC_000004.11:g.658734G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs727504075
Molecular consequence:
NM_000283.3:c.2193+1G>A: splice donor variant [Sequence Ontology SO:0001575]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00008
  • The Genome Aggregation Database (gnomAD), exomes 0.00007
  • Trans-Omics for Precision Medicine (TOPMed) 0.00003

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
(Oct 8, 2015)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000203224.7
Pathogenic
(Mar 11, 2015)
criteria provided, single submitter
clinical testinggermlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000271435.2
Pathogenic
(Jan 1, 2015)
no assertion criteria providedresearchunknownNIHR Bioresource Rare Diseases,University of CambridgeSCV000599143.1
Pathogenic
(Sep 1, 2016)
no assertion criteria providedclinical testingunknown
    Human Genetics - Radboudumc,Radboudumc
    Study description
    SCV000804678.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submitters17germline, unknownEuropeannot provided
    EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided3germlinenot providednot providednot provided
    Human Genetics - Radboudumc,Radboudumcnot provided1unknownnot providednot providednot providednot provided
    Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine11germlinenot providednot providedThe c.2193+1G>A variant in PDE…Full description
    NIHR Bioresource Rare Diseases,University of Cambridgenot provided2unknownEuropeannot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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