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NM_201253.2(CRB1):c.1533C>T (p.Ala511=)

Variation ID: Help
166957
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_201253.2(CRB1):c.1533C>T (p.Ala511=)

Allele ID:
177649
Variant type:
single nucleotide variant
Cytogenetic location:
1q31.3
Genomic location:
  • Chr1: 197421361 (on Assembly GRCh38)
  • Chr1: 197390491 (on Assembly GRCh37)
HGVS:
  • NG_008483.2:g.224900C>T
  • NM_201253.2:c.1533C>T
  • NP_957705.1:p.Ala511=
  • NC_000001.11:g.197421361C>T (GRCh38)
  • NR_047563.1:n.1742C>T
  • NC_000001.10:g.197390491C>T (GRCh37)
  • NP_957705.1:p.(=)
Links:
NCBI 1000 Genomes Browser:
rs142224492
Molecular consequence:
  • NM_201253.2:c.1533C>T: synonymous variant SO:0001819
  • NR_047563.1:n.1742C>T: non-coding transcript variant SO:0001619
Allele frequency:
  • 1000 Genomes Project 0.00379 (T)
  • 1000 Genomes Project 0.00379
  • Exome Aggregation Consortium (ExAC) 0.00360
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
  • The Genome Aggregation Database (gnomAD) 0.00029
  • The Genome Aggregation Database (gnomAD), exomes 0.00333
  • Trans-Omics for Precision Medicine (TOPMed) 0.00041

1 Affected gene

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
Benign
(Sep 15, 2016)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000202566.7
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermline
    Illumina Clinical Services Laboratory,IlluminaSCV000352806.2
    Likely benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000352807.2
      Likely benign
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testing
      • Retinitis Pigmentosa, Recessive[MedGen]
      germline
        Illumina Clinical Services Laboratory,IlluminaSCV000352808.2
        Benign
        (Jun 23, 2018)
        criteria provided, single submitter
        clinical testinggermline
          ARUP Laboratories, Molecular Genetics and Genomics,ARUP LaboratoriesSCV000883685.1
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot provided2germlinenot providednot provided
          ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriesnot providednot providedgermlinenot providednot providednot providednot provided
          EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided2germlinenot providednot providednot provided
          Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: Jun 17, 2019

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