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NM_021007.2(SCN2A):c.5645G>A (p.Arg1882Gln)

Variation ID: Help
196039
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_021007.2(SCN2A):c.5645G>A (p.Arg1882Gln)

Allele ID:
193200
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
  • Chr2: 165389451 (on Assembly GRCh38)
  • Chr2: 166245961 (on Assembly GRCh37)
Other names:
  • p.R1882Q:CGA>CAA
Protein change:
R1882Q
HGVS:
  • NG_008143.1:g.155050G>A
  • NM_001040142.1:c.5645G>A
  • NM_021007.2:c.5645G>A
  • NP_001035232.1:p.Arg1882Gln
  • NP_066287.2:p.Arg1882Gln
  • NC_000002.12:g.165389451G>A (GRCh38)
  • NC_000002.11:g.166245961G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs794727444
Molecular consequence:
NM_001040142.1:c.5645G>A: missense variant [Sequence Ontology SO:0001583]

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 pathogenic
(Jul 15, 2014)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000228474.4
Likely pathogenic
(Jul 15, 2014)
criteria provided, single submitter
clinical testing
  • Early infantile epileptic encephalopathy 11[MedGen | OMIM]
germlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000228475.4
Pathogenic
(Mar 15, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000242813.11
    Pathogenic
    (Nov 16, 2016)
    criteria provided, single submitter
    clinical testingde novo
      Neurogenetics Laboratory - MEYER,AOU MeyerSCV000494507.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot provided3de novo, germlinenot providednot provided
      EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided2germlinenot providednot providednot provided
      GeneDxnot providednot providedgermlinenot providednot providednot providedThe R1882Q variant in the SCN2…Full description
      Neurogenetics Laboratory - MEYER,AOU Meyernot provided1de novonot providednot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Jul 21, 2018