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NM_024426.5(WT1):c.*1132A>T

Variation ID: Help
304374
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely benign
Last evaluated:
Jun 14, 2016
Number of submission(s):
4
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_024426.5(WT1):c.*1132A>T

Allele ID:
313892
Variant type:
single nucleotide variant
Cytogenetic location:
11p13
Genomic location:
  • Chr11: 32387926 (on Assembly GRCh38)
  • Chr11: 32409472 (on Assembly GRCh37)
HGVS:
  • NG_009272.1:g.52616A>T
  • NM_001198551.1:c.*1132A>T
  • NM_024426.5:c.*1132A>T
  • NC_000011.10:g.32387926T>A (GRCh38)
  • LRG_525t1:c.*1132A>T
  • LRG_525t2:c.*1132A>T
  • NC_000011.9:g.32409472T>A (GRCh37)
  • NM_024426.4:c.*1132A>T
  • LRG_525:g.52616A>T
Links:
NCBI 1000 Genomes Browser:
rs5030328
Molecular consequence:
NM_001198551.1:c.*1132A>T: 3 prime UTR variant [Sequence Ontology SO:0001624]
Allele frequency:
  • 1000 Genomes Project 0.00879 (A)
  • 1000 Genomes Project 0.00879
  • The Genome Aggregation Database (gnomAD) 0.02333
  • Trans-Omics for Precision Medicine (TOPMed) 0.02251

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
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermline
    Illumina Clinical Services Laboratory,IlluminaSCV000371240.2
    Likely benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000371241.2
      Likely benign
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Illumina Clinical Services Laboratory,IlluminaSCV000371242.2
        Likely benign
        (Jun 14, 2016)
        criteria provided, single submitter
        clinical testing
        • Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome[MedGen | Orphanet | OMIM]
        germline
          Illumina Clinical Services Laboratory,IlluminaSCV000371243.2
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: May 14, 2019

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