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NM_001135659.2(NRXN1):c.2579G>A (p.Ser860Asn)

Variation ID: Help
206242
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001135659.2(NRXN1):c.2579G>A (p.Ser860Asn)

Allele ID:
201678
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
  • Chr2: 50506533 (on Assembly GRCh38)
  • Chr2: 50733671 (on Assembly GRCh37)
Other names:
  • p.S860N:AGT>AAT
Protein change:
S860N
HGVS:
  • NG_011878.1:g.531004G>A
  • NM_001135659.2:c.2579G>A
  • NP_001129131.1:p.Ser860Asn
  • NC_000002.12:g.50506533C>T (GRCh38)
  • NC_000002.11:g.50733671C>T (GRCh37)
  • NM_001135659.1:c.2579G>A
Links:
NCBI 1000 Genomes Browser:
rs80293130
Molecular consequence:
NM_001135659.2:c.2579G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00020 (T)
  • 1000 Genomes Project 0.00020
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00033
  • The Genome Aggregation Database (gnomAD) 0.00023
  • The Genome Aggregation Database (gnomAD), exomes 0.00027
  • Trans-Omics for Precision Medicine (TOPMed) 0.00013

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
(Dec 20, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000241881.11
    Uncertain significance
    (Jul 18, 2014)
    criteria provided, single submitter
    clinical testinggermline
      Genetic Services Laboratory, University of ChicagoSCV000248279.1
      Uncertain significance
      (May 23, 2017)
      criteria provided, single submitter
      clinical testingunknown
        Fulgent Genetics,Fulgent GeneticsSCV000611415.1
        Uncertain significance
        (Mar 2, 2018)
        criteria provided, single submitter
        clinical testinggermlineInvitaeSCV000835231.1
        Uncertain significance
        (Dec 20, 2016)
        criteria provided, single submitter
        clinical testing
        • History of neurodevelopmental disorder[MedGen]
        germline
          Ambry GeneticsSCV000851423.2
          Uncertain significance
          (Aug 23, 2017)
          criteria provided, single submitter
          clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000856192.1
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot provided2germline, unknownnot providednot provided
          Ambry Geneticsnot provided1germlinenot providednot providednot providedLines of evidence used in supp…Full description
          EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided1germlinenot providednot providednot provided
          Fulgent Genetics,Fulgent Geneticsnot providednot providedunknownnot providednot 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
          Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: Mar 31, 2019

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