NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter)

Variation ID: Help
36572
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter)

Allele ID:
45234
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
  • Chr2: 47476399 (on Assembly GRCh38)
  • Chr2: 47703538 (on Assembly GRCh37)
Protein change:
R680*, R614*
HGVS:
  • NG_007110.2:g.78276C>T
  • NM_000251.2:c.2038C>T
  • NM_001258281.1:c.1840C>T
  • NP_000242.1:p.Arg680Ter
  • NP_001245210.1:p.Arg614Ter
  • NC_000002.12:g.47476399C>T (GRCh38)
  • LRG_218t1:c.2038C>T
  • NC_000002.11:g.47703538C>T (GRCh37)
  • NM_000251.1:c.2038C>T
  • p.Arg680X
  • LRG_218p1:p.Arg680Ter
  • LRG_218:g.78276C>T
Links:
dbSNP: 63749932
NCBI 1000 Genomes Browser:
rs63749932
Molecular consequence:
NM_000251.2:c.2038C>T: nonsense [Sequence Ontology SO:0001587]

Variant frequency in dbGaP Help

NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter)

GRCh37 Chr2:47703538
Called variantsPotential variants
Sample countno data0 of 40907

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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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
Pathogenic
(Sep 5, 2013)
reviewed by expert panel
researchgermlineInSiGHTSCV000107394.2
Pathogenic
(Jun 2, 2016)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000149424.9
    Pathogenic
    (Jan 9, 2016)
    criteria provided, single submitter
    clinical testing
    • Hereditary cancer-predisposing syndrome[MedGen]
    germline
      Ambry GeneticsSCV000184869.3
      Pathogenic
      (Jan 22, 2016)
      criteria provided, single submitter
      clinical testinggermline
        InvitaeSCV000219114.3
        Pathogenic
        (Aug 18, 2011)
        criteria provided, single submitter
        clinical testing, literature onlygermlineLabCorpSCV000052915.1
        Pathogenicno assertion criteria providedresearchunknown
          Mayo Clinic Genetic Testing Laboratories,Mayo ClinicSCV000257165.1
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot provided15germline, unknownnot providednot provided
          Ambry Geneticsnot provided1germlinenot providednot providednot providednot provided
          GeneDxnot providednot providedgermlinenot providednot providednot providedThis pathogenic variant is den…Full description
          InSiGHTnot providednot providedgermlinenot providednot providedCoding sequence variation intr…Full description
          Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change creates a…Full description
          LabCorpnot provided9germlinenot providednot providednot provided
          Mayo Clinic Genetic Testing Laboratories,Mayo Clinicnot provided5unknownnot providednot providednot providednot provided
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: Dec 7, 2016