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NM_024685.3(BBS10):c.271dupT (p.Cys91Leufs)

Variation ID: Help
1328
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_024685.3(BBS10):c.271dupT (p.Cys91Leufs)

Allele ID:
16367
Variant type:
Duplication
Cytogenetic location:
12q21.2
Genomic location:
  • Chr12: 76347714 (on Assembly GRCh38)
  • Chr12: 76741494 (on Assembly GRCh37)
Other names:
  • BBS10, 1-BP DUP, 271T
HGVS:
  • NG_016357.1:g.5729dup
  • NM_024685.3:c.271dupT
  • NP_078961.3:p.Cys91Leufs
  • NC_000012.12:g.76347714dupA (GRCh38)
  • NC_000012.11:g.76741494dupA (GRCh37)
  • NM_024685.3:c.271dup
Links:
NCBI 1000 Genomes Browser:
rs549625604
Molecular consequence:
NM_024685.3:c.271dupT: frameshift variant [Sequence Ontology SO:0001589]

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
(Mar 16, 2018)
criteria provided, single submitter
clinical testinggermlineInvitaeSCV000218785.8
Pathogenic
(Feb 22, 2016)
criteria provided, single submitter
clinical testinggermline
    EGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000331663.2
    Pathogenic
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermlineIllumina Clinical Services Laboratory,IlluminaSCV000381157.2
    Pathogenic
    (Mar 11, 2016)
    criteria provided, single submitter
    clinical testingunknownCounsylSCV000485249.1
    Pathogenic
    (Sep 19, 2016)
    criteria provided, single submitter
    clinical testinggermline
      GeneDxSCV000568844.3
      Pathogenic
      (Mar 15, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Genetic Services Laboratory, University of ChicagoSCV000593594.1
        Pathogenic
        (Sep 8, 2015)
        criteria provided, single submitter
        clinical testinggermlineAthena Diagnostics IncSCV000612485.1
        Pathogenic
        (May 14, 2017)
        criteria provided, single submitter
        clinical testinggermlineIntegrated Genetics/Laboratory Corporation of AmericaSCV000699624.1
        Pathogenic
        (Aug 22, 2014)
        criteria provided, single submitter
        clinical testing
        • Inborn genetic diseases[MeSH | MedGen]
        germlineAmbry GeneticsSCV000740720.1
        Pathogenic
        (Jan 27, 2016)
        criteria provided, single submitter
        clinical testinggermline
          Genome Diagnostics Laboratory,University Medical Center Utrecht - VKGL Data-share ConsensusSCV000744062.1
          Pathogenic
          (May 31, 2017)
          criteria provided, single submitter
          clinical testinggermline
            DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center - VKGL Data-share ConsensusSCV000745512.1
            Pathogenic
            (Jan 1, 2015)
            no assertion criteria providedresearchunknownNIHR Bioresource Rare Diseases,University of CambridgeSCV000599084.1
            Pathogenic
            (Jul 17, 2014)
            no assertion criteria providedresearchgermlineDivision of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeqSCV000238414.1
            Pathogenic
            (Dec 1, 2010)
            no assertion criteria providedliterature onlygermlineOMIMSCV000021541.5
            Pathogenic
            (Dec 1, 2010)
            no assertion criteria providedliterature only
            • Bardet-biedl syndrome 6/10, digenic[MedGen]
            germlineOMIMSCV000190013.4
            SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
            Total for all submittersnot provided9germline, unknownEuropean; European-origin,Asian-originNative American;German
            Ambry Geneticsnot provided1germlineEuropean-origin,Asian-originNative American;GermanLines of evidence used in supp…Full description
            Athena Diagnostics Incnot providednot providedgermlinenot providednot providednot provided
            Counsylnot providednot providedunknownnot providednot providednot provided
            DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Centernot providednot providedgermlinenot providednot providednot providednot provided
            Division of Human Genetics,Children's Hospital of Philadelphianot providednot providedgermlinenot providednot providedThis patient is a carrier of a…Full description
            EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided7germlinenot providednot providednot providednot provided
            GeneDxnot providednot providedgermlinenot providednot providednot providedThe c.271dupT pathogenic varia…Full description
            Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providednot provided
            Genome Diagnostics Laboratory,University Medical Center Utrechtnot providednot providedgermlinenot providednot providednot providednot provided
            Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providedThe c.271dupT (p.Cys91LeufsTer…Full description
            Integrated Genetics/Laboratory Corporation of Americanot providednot providedgermlinenot providednot providedVariant summary: The BBS10 c.2…Full description
            Invitaenot providednot providedgermlinenot providednot providedThis sequence change results i…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