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NM_004992.3(MECP2):c.590C>T (p.Thr197Met)

Variation ID: Help
138187
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_004992.3(MECP2):c.590C>T (p.Thr197Met)

Allele ID:
141890
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
  • ChrX: 154031238 (on Assembly GRCh38)
  • ChrX: 153296689 (on Assembly GRCh37)
Other names:
  • p.T197M:ACG>ATG
Protein change:
T197M, T209M
HGVS:
  • NG_007107.2:g.110890C>T
  • NM_001110792.1:c.626C>T
  • NM_004992.3:c.590C>T
  • NP_001104262.1:p.Thr209Met
  • NP_004983.1:p.Thr197Met
  • NC_000023.11:g.154031238G>A (GRCh38)
  • NC_000023.10:g.153296689G>A (GRCh37)
  • AJ132917.1:c.590C>T
  • P51608:p.Thr197Met
Links:
NCBI 1000 Genomes Browser:
rs61749714
Molecular consequence:
NM_004992.3:c.590C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GMAF 0.00030 (A)
  • ExAC 0.00055 (A)

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
(Aug 15, 2014)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000230273.4
Benign
(Feb 8, 2013)
criteria provided, single submitter
clinical testinggermline
    Genetic Services Laboratory, University of ChicagoSCV000247980.1
    Likely benign
    (Dec 5, 2014)
    criteria provided, single submitter
    clinical testinggermline
      Center for Pediatric Genomic Medicine,Children's Mercy Hospital and ClinicsSCV000281658.1
      Benign
      (Oct 2, 2015)
      criteria provided, single submitter
      clinical testinggermline
        Integrated Genetics/Laboratory Corporation of AmericaSCV000282492.2
        Likely benign
        (Mar 28, 2016)
        criteria provided, single submitter
        clinical testinggermline
          Laboratory for Molecular Medicine,Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)SCV000539603.1
          Benign
          (Sep 19, 2017)
          criteria provided, single submitter
          clinical testinggermline
            InvitaeSCV000556731.3
            Likely benign
            (Dec 18, 2017)
            criteria provided, single submitter
            clinical testing
            • Mental retardation, X-linked, syndromic 13[MedGen | OMIM]
            inherited
              Genomic Research Center,Shahid Beheshti University of Medical SciencesSCV000746855.1
              Likely benign
              (Dec 18, 2017)
              criteria provided, single submitter
              clinical testinginherited
                Genomic Research Center,Shahid Beheshti University of Medical SciencesSCV000746927.1
                Benign
                (Mar 18, 2013)
                criteria provided, single submitter
                clinical testinggermline
                  GeneDxSCV000170219.10
                  Benign
                  (Jun 12, 2013)
                  no assertion criteria providedcurationmaternal, unknown
                    RettBASESCV000188161.2
                    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
                    Total for all submittersnot provided14germline, inherited, maternal, unknownnot providedIran
                    Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicsnot providednot providedgermlinenot providednot providednot providedConverted during submission to…Full description
                    EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided1germlinenot providednot providednot provided
                    GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered lik…Full description
                    Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providednot provided
                    Genomic Research Center,Shahid Beheshti University of Medical Sciencesnot providednot providedinheritednot providedIrannot providednot provided
                    Integrated Genetics/Laboratory Corporation of Americanot providednot providedgermlinenot providednot providednot providedThe observed allele frequency …Full description
                    Invitaenot providednot providedgermlinenot providednot providednot providednot provided
                    Laboratory for Molecular Medicine,Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)not providednot providedgermlinenot providednot providednot providedVariant identified in a genome…Full description
                    RettBASEnot provided13maternal, unknownnot providednot providednot provided
                    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

                    Last Updated: Sep 8, 2018