NM_000249.3(MLH1):c.1852_1854delAAG (p.Lys618del)

Variation ID: Help
17080
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000249.3(MLH1):c.1852_1854delAAG (p.Lys618del)

Allele ID:
32119
Variant type:
Deletion
Cytogenetic location:
3p22.2
Genomic location:
  • Chr3: 37047639 - 37047641 (on Assembly GRCh38)
  • Chr3: 37089130 - 37089132 (on Assembly GRCh37)
Other names:
  • MLH1, 3-BP DEL, LYS618DEL
Protein change:
K618del, K616del, K375del, K518del, K377del, K520del
HGVS:
  • NG_007109.2:g.59290_59292delAAG
  • NM_000249.3:c.1852_1854delAAG
  • NC_000003.12:g.37047639_37047641delAAG (GRCh38)
  • NP_000240.1:p.Lys618del
  • LRG_216t1:c.1852_1854delAAG
  • NC_000003.11:g.37089130_37089132delAAG (GRCh37)
  • NM_000249.3:c.1852_1854del
  • LRG_216p1:p.Lys618del
  • LRG_216:g.59290_59292delAAG
Links:
NCBI 1000 Genomes Browser:
rs121912962
Molecular consequence:
NM_000249.3:c.1852_1854delAAG: inframe_variant [Sequence Ontology SO:0001650]

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
(Guidelines v1.9)
researchgermlineInSiGHTSCV000106376.2
Pathogenic
(Jan 21, 2015)
criteria provided, single submitter
(Ambry Autosomal Dominant and X-Linked criteria (9/4/14))
clinical testing
  • Hereditary cancer-predisposing syndrome[MedGen]
germline
    Ambry Genetics,SCV000184091.2
    Pathogenic
    (Jan 22, 2013)
    criteria provided, single submitter
    (Ambry Autosomal Dominant and X-Linked criteria (9/4/14))
    clinical testing
    • Hereditary cancer-predisposing syndrome[MedGen]
    germline
      Ambry Genetics,SCV000186087.2
      Pathogenic
      (May 29, 2016)
      criteria provided, single submitter
      (GeneDx Variant Classification (06012015))
      clinical testinggermline
        GeneDxSCV000211081.5
        Pathogenic
        (Dec 5, 2014)
        criteria provided, single submitter
        (ACMG Guidelines, 2015)
        clinical testinggermline
          Genetic Services Laboratory, University of ChicagoSCV000248052.1
          Pathogenic
          (Feb 6, 2016)
          criteria provided, single submitter
          (Invitae Variant Classification Sherloc (09022015))
          clinical testinggermline
            InvitaeSCV000255268.3
            Pathogenicno assertion criteria providedresearchunknown
              Mayo Clinic Genetic Testing Laboratories,Mayo ClinicSCV000257069.1
              Pathogenic
              (Feb 5, 2015)
              no assertion criteria providedliterature onlygermline
                OMIMSCV000038892.2
                Pathogenic
                (Apr 1, 2009)
                no assertion criteria providedliterature onlygermlineOMIMSCV000038910.1
                Pathogenicno assertion criteria providedclinical testinggermline
                  Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository (COGR)SCV000219598.1
                  SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
                  Total for all submittersnot provided5germline, unknownnot providednot provided
                  Ambry Genetics,not providednot providedgermlinenot providednot providednot providednot provided
                  GeneDxnot providednot providedgermlinenot providednot providednot providedThis deletion of 3 nucleotides…Full description
                  Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providednot provided
                  Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontarionot providednot providedgermlinenot providednot providednot providednot provided
                  InSiGHTnot providednot providedgermlinenot providednot providedAbrogated function (reduced ex…Full description
                  Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change deletes 3…Full description
                  Mayo Clinic Genetic Testing Laboratories,Mayo Clinicnot provided5unknownnot providednot providednot providednot provided
                  OMIMnot providednot providedgermlinenot providednot providednot provided
                  SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

                  Last Updated: Sep 18, 2016