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NM_201548.4(CERKL):c.769C>T

Variation ID: Help
2364
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_201548.4(CERKL):c.769C>T (p.Arg257Ter)

Allele ID:
17403
Variant type:
single nucleotide variant
Cytogenetic location:
2q31
Genomic location:
  • Chr2: 181558617 (on Assembly GRCh38)
  • Chr2: 182423344 (on Assembly GRCh37)
Protein change:
R257*, R283*
HGVS:
  • NG_021178.1:g.103491C>T
  • NM_001030311.2:c.847C>T
  • NM_001030312.2:c.482-8909C>T
  • NM_201548.4:c.769C>T
  • NP_001025482.1:p.Arg283Ter
  • NP_963842.1:p.Arg257Ter
  • NC_000002.12:g.181558617G>A (GRCh38)
  • NR_027689.1:n.674C>T
  • NC_000002.11:g.182423344G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs121909398
Molecular consequence:
  • NM_001030311.2:c.847C>T: nonsense SO:0001587
  • NM_001030312.2:c.482-8909C>T: intron variant SO:0001627
  • NR_027689.1:n.674C>T: non-coding transcript variant SO:0001619
Allele frequency:
  • GO-ESP 0.00048 (A)
  • ExAC 0.00040 (A)

Assertions for related alleles

NM_201548.4(CERKL):c.[674A>T];[769C>T]

Clinical significance:
Pathogenic
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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
(Jun 14, 2016)
criteria provided, single submitter
clinical testing
  • Retinitis Pigmentosa, Recessive[MedGen]
germlineIllumina Clinical Services Laboratory,IlluminaSCV000425451.2
Pathogenic
(Dec 16, 2016)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000701199.1
Pathogenic
(Jan 1, 2017)
criteria provided, single submitter
clinical testingunknown
    Centre for Mendelian Genomics,University Medical Centre LjubljanaSCV000747434.1
    Pathogenic
    (Sep 1, 2016)
    no assertion criteria providedclinical testingunknown
      Human Genetics - Radboudumc,Radboudumc
      Study description
      SCV000804612.2
      Pathogenic
      (Jan 1, 2015)
      no assertion criteria providedresearchunknownNIHR Bioresource Rare Diseases,University of CambridgeSCV000598883.1
      Pathogenic
      (Jan 1, 2015)
      no assertion criteria providedresearchunknownNIHR Bioresource Rare Diseases,University of CambridgeSCV000598884.1
      Pathogenic
      (Oct 1, 2013)
      no assertion criteria providedliterature onlygermlineOMIMSCV000022618.3
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot provided10germline, unknownEuropean; NA; South East Asiannot provided
      Centre for Mendelian Genomics,University Medical Centre Ljubljananot providednot providedunknownnot providednot providednot providednot provided
      EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided4germlinenot providednot providednot provided
      Human Genetics - Radboudumc,Radboudumcnot provided1unknownnot providednot providednot providednot provided
      Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providedThe c.769C>T (p.Arg257Ter) var…Full description
      NIHR Bioresource Rare Diseases,University of Cambridgenot provided5unknownEuropean; NA; South East Asiannot providednot provided
      OMIMnot providednot providedgermlinenot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Oct 24, 2018