NM_000249.3(MLH1):c.676C>T (p.Arg226Ter)

Variation ID: Help
17087
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000249.3(MLH1):c.676C>T (p.Arg226Ter)

Allele ID:
32126
Variant type:
single nucleotide variant
Cytogenetic location:
3p22
Genomic location:
  • Chr3: 37012098 (on Assembly GRCh38)
  • Chr3: 37053589 (on Assembly GRCh37)
Other names:
  • p.R226*:CGA>TGA
Protein change:
R226*, R128*
HGVS:
  • NG_007109.2:g.23749C>T
  • NM_000249.3:c.676C>T
  • NM_001167617.1:c.382C>T
  • NM_001167618.1:c.-48C>T
  • NP_000240.1:p.Arg226Ter
  • NP_001161089.1:p.Arg128Ter
  • NC_000003.12:g.37012098C>T (GRCh38)
  • LRG_216t1:c.676C>T
  • NC_000003.11:g.37053589C>T (GRCh37)
  • LRG_216p1:p.Arg226Ter
  • LRG_216:g.23749C>T
Links:
NCBI 1000 Genomes Browser:
rs63751615
Molecular consequence:
  • NM_000249.3:c.676C>T: nonsense SO:0001587
  • NM_001167618.1:c.-48C>T: 5 prime UTR variant SO:0001623
Allele frequency:
ExAC 0.00001 (T)

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
Pathogenic
(Sep 5, 2013)
reviewed by expert panel
researchgermlineInSiGHTSCV000106813.2
Pathogenic
(May 17, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000149394.12
    Pathogenic
    (Oct 12, 2015)
    criteria provided, single submitter
    clinical testing
    • Hereditary cancer-predisposing syndrome[MedGen]
    germline
      Ambry GeneticsSCV000212825.2
      Pathogenic
      (Feb 22, 2016)
      criteria provided, single submitter
      clinical testinggermline
        InvitaeSCV000284071.1
        Pathogenic
        (May 1, 2001)
        no assertion criteria providedliterature onlygermlineOMIMSCV000038899.2
        Pathogenic
        (May 1, 2001)
        no assertion criteria providedliterature onlygermlineOMIMSCV000038900.2
        Pathogenicno assertion criteria providedresearchunknown
          Mayo Clinic Genetic Testing Laboratories,Mayo ClinicSCV000257111.1
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot provided2germline, unknownnot providednot provided
          Ambry Geneticsnot provided1germlinenot providednot providednot providednot provided
          GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is denoted MLH1 c…Full description
          InSiGHTnot providednot providedgermlinenot providednot providedCoding sequence variation resu…Full description
          Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change creates a…Full description
          Mayo Clinic Genetic Testing Laboratories,Mayo Clinicnot provided1unknownnot providednot providednot providednot provided
          OMIMnot providednot providedgermlinenot providednot providednot provided
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: Sep 19, 2017