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NM_001003722.1(GLE1):c.1641T>C (p.Tyr547=)

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

Interpretation Help

Allele(s) Help

NM_001003722.1(GLE1):c.1641T>C (p.Tyr547=)

Allele ID:
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
  • Chr9: 128533946 (on Assembly GRCh38)
  • Chr9: 131296225 (on Assembly GRCh37)
  • NG_012073.1:g.34255T>C
  • NM_001003722.1:c.1641T>C
  • NM_001499.2:c.1641T>C
  • NP_001003722.1:p.Tyr547=
  • NP_001490.1:p.Tyr547=
  • NC_000009.12:g.128533946T>C (GRCh38)
  • LRG_484t1:c.1641T>C
  • LRG_484t2:c.1641T>C
  • NC_000009.11:g.131296225T>C (GRCh37)
  • LRG_484p1:p.Tyr547=
  • LRG_484p2:p.Tyr547=
  • LRG_484:g.34255T>C
NCBI 1000 Genomes Browser:
Molecular consequence:
NM_001003722.1:c.1641T>C: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • 1000 Genomes Project 0.00120 (C)
  • 1000 Genomes Project 0.00120
  • Exome Aggregation Consortium (ExAC) 0.00044
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
  • The Genome Aggregation Database (gnomAD) 0.00019
  • The Genome Aggregation Database (gnomAD), exomes 0.00043
  • Trans-Omics for Precision Medicine (TOPMed) 0.00054

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details


Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Nov 6, 2014)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000225249.5
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
clinical testing
  • Lethal Congenital Contracture Syndrome[MedGen]
    Illumina Clinical Services Laboratory,IlluminaSCV000477441.2
    Uncertain significance
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000477442.2
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot provided1germlinenot providednot provided
      EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided1germlinenot providednot providednot provided
      Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: May 21, 2019

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