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NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs)

Variation ID: Help
2351
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs)

Allele ID:
17390
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
  • Chr1: 216247095 (on Assembly GRCh38)
  • Chr1: 216420437 (on Assembly GRCh37)
HGVS:
  • NG_009497.1:g.181302delG
  • NM_007123.5:c.2299delG
  • NM_206933.2:c.2299delG
  • NP_009054.5:p.Glu767Serfs
  • NP_996816.2:p.Glu767Serfs
  • NC_000001.11:g.216247095delC (GRCh38)
  • NC_000001.10:g.216420437delC (GRCh37)
Note:
NCBI staff reviewed the sequence information reported in PubMed 9624053 Fig. 2B to determine the location of this allele on the current reference sequence.
Links:
NCBI 1000 Genomes Browser:
rs80338903
Molecular consequence:
NM_206933.2:c.2299delG: frameshift variant [Sequence Ontology SO:0001589]
Allele frequency:
  • GO-ESP 0.00096 (-)
  • ExAC 0.00079 (-)

Assertions for related alleles

NM_206933.2(USH2A):c.[2299del;4714C>T]

Clinical significance:
Pathogenic
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

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
Pathogenic
(Sep 30, 2014)
criteria provided, single submitter
clinical testinggermlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000065508.5
Pathogenic
(Oct 14, 2016)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000225952.4
Pathogenic
(Jun 28, 2015)
criteria provided, single submitter
clinical testing
  • Retinitis pigmentosa 39 (Autosomal recessive inheritance)[MedGen | OMIM]
germlineBaylor Miraca Genetics Laboratories, - Adult_WES
Study description
SCV000245550.1
Pathogenic
(Nov 6, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000321994.6
    Pathogenic
    (Aug 18, 2016)
    criteria provided, single submitter
    clinical testingunknownCounsylSCV000490145.1
    Pathogenic
    (Aug 18, 2016)
    criteria provided, single submitter
    clinical testingunknownCounsylSCV000490146.1
    Likely pathogenic
    (Oct 23, 2014)
    criteria provided, single submitter
    clinical testing
    • Inborn genetic diseases[MeSH | MedGen]
    germlineAmbry GeneticsSCV000740743.1
    Pathogenic
    (Sep 1, 2016)
    no assertion criteria providedclinical testingunknown
      Human Genetics - Radboudumc,Radboudumc
      Study description
      SCV000804740.2
      Pathogenic
      (Dec 1, 2009)
      no assertion criteria providedliterature onlygermlineOMIMSCV000022603.2
      Pathogenic
      (Dec 23, 2010)
      no assertion criteria providedcurationnot providedGeneReviewsSCV000056187.2
      Pathogenic
      (Jan 1, 2015)
      no assertion criteria providedresearchunknownNIHR Bioresource Rare Diseases,University of CambridgeSCV000598799.1
      Pathogenic
      (Jan 1, 2015)
      no assertion criteria providedresearchunknownNIHR Bioresource Rare Diseases,University of CambridgeSCV000598800.1
      Pathogenic
      (Jan 30, 2015)
      no assertion criteria providedclinical testinggermlineCentre for Genomic Medicine, Manchester,Central Manchester University HospitalsSCV000259101.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submitters58102germline, not provided, unknownCausasians; European; European-origin; NAnot provided
      Ambry Geneticsnot provided1germlineEuropean-originnot providedLines of evidence used in supp…Full description
      Baylor Miraca Genetics Laboratories,1616germlineCausasiansnot providedThis variant has been previous…Full description
      Centre for Genomic Medicine, Manchester,Central Manchester University Hospitalsnot providednot providedgermlinenot providednot providednot provided
      Counsylnot providednot providedunknownnot providednot providednot provided
      EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided10germlinenot providednot providednot provided
      GeneDxnot providednot providedgermlinenot providednot providednot providedThe c.2299delG variant account…Full description
      GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
      Human Genetics - Radboudumc,Radboudumcnot provided1unknownnot providednot providednot providednot provided
      Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine4262germlinenot providednot providedThe p.Glu767fs variant in USH2…Full description
      NIHR Bioresource Rare Diseases,University of Cambridgenot provided12unknownEuropean; NAnot providednot provided
      OMIMnot providednot providedgermlinenot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Nov 12, 2018