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NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe)

Variation ID: Help
193120
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe)

Allele ID:
190285
Variant type:
single nucleotide variant
Cytogenetic location:
2q23.3
Genomic location:
  • Chr2: 152099007 (on Assembly GRCh38)
  • Chr2: 152955521 (on Assembly GRCh37)
Protein change:
S2F
HGVS:
  • NG_012641.1:g.5073C>T
  • NM_000726.4:c.5C>T
  • NM_001005746.3:c.-358C>T
  • NP_000717.2:p.Ser2Phe
  • NC_000002.12:g.152099007G>A (GRCh38)
  • NC_000002.11:g.152955521G>A (GRCh37)
  • NM_000726.2:c.5C>T
  • NM_000726.3:c.5C>T
Links:
NCBI 1000 Genomes Browser:
rs200092211
Molecular consequence:
  • NM_000726.4:c.5C>T: missense variant SO:0001583
  • NM_001005746.3:c.-358C>T: 2KB upstream variant SO:0001636
Allele frequency:
  • 1000 Genomes Project 0.00020 (A)
  • 1000 Genomes Project 0.00020
  • Exome Aggregation Consortium (ExAC) 0.00201
  • The Genome Aggregation Database (gnomAD) 0.00059
  • The Genome Aggregation Database (gnomAD), exomes 0.00139
  • Trans-Omics for Precision Medicine (TOPMed) 0.00094

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
Uncertain significance
(Aug 13, 2014)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000224258.5
Uncertain significance
(Aug 4, 2015)
criteria provided, single submitter
clinical testinggermline
    Genetic Services Laboratory, University of ChicagoSCV000246842.1
    Uncertain significance
    (Dec 12, 2017)
    criteria provided, single submitter
    clinical testinggermline
      GeneDxSCV000329192.6
      Likely benign
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Illumina Clinical Services Laboratory,IlluminaSCV000417261.2
        Likely benign
        (Jun 14, 2016)
        criteria provided, single submitter
        clinical testinggermline
          Illumina Clinical Services Laboratory,IlluminaSCV000417262.2
          Likely benign
          (Dec 19, 2017)
          criteria provided, single submitter
          clinical testinggermline
            InvitaeSCV000562362.3
            Uncertain significance
            (May 23, 2017)
            criteria provided, single submitter
            clinical testingunknown
              Fulgent GeneticsSCV000611380.1
              Uncertain significance
              (Mar 31, 2016)
              criteria provided, single submitter
              clinical testing
              • Epilepsy, idiopathic generalized 9[MedGen | OMIM]
              maternal
                Mayo Clinic Genetic Testing Laboratories,Mayo ClinicSCV000782433.1
                SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
                Total for all submittersnot provided1germline, maternal, unknownnot providednot provided
                EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided1germlinenot providednot providednot provided
                Fulgent Geneticsnot providednot providedunknownnot providednot providednot providednot provided
                GeneDxnot providednot providedgermlinenot providednot providednot providedThe S2F variant of unknown sig…Full description
                Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providednot provided
                Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
                Invitaenot providednot providedgermlinenot providednot providednot providednot provided
                Mayo Clinic Genetic Testing Laboratories,Mayo Clinicnot providednot providedmaternalnot providednot providednot providednot provided
                SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

                Last Updated: May 9, 2019

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