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NM_000249.3(MLH1):c.1269G>A (p.Arg423=)

Variation ID: Help
182541
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000249.3(MLH1):c.1269G>A (p.Arg423=)

Allele ID:
180149
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
  • Chr3: 37025867 (on Assembly GRCh38)
  • Chr3: 37067358 (on Assembly GRCh37)
Other names:
  • p.R423R:AGG>AGA
HGVS:
  • NG_007109.2:g.37518G>A
  • NM_000249.3:c.1269G>A
  • NP_000240.1:p.Arg423=
  • NC_000003.12:g.37025867G>A (GRCh38)
  • LRG_216t1:c.1269G>A
  • NC_000003.11:g.37067358G>A (GRCh37)
  • LRG_216p1:p.Arg423=
  • LRG_216:g.37518G>A
Links:
NCBI 1000 Genomes Browser:
rs373076967
Molecular consequence:
NM_000249.3:c.1269G>A: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00007
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
  • The Genome Aggregation Database (gnomAD), exomes 0.00008
  • Trans-Omics for Precision Medicine (TOPMed) 0.00007

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
Benign
(Jul 16, 2014)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000211141.10
    Likely benign
    (Nov 25, 2014)
    criteria provided, single submitter
    clinical testing
    • Hereditary cancer-predisposing syndrome[MedGen]
    germline
      Ambry GeneticsSCV000213054.4
      Likely benign
      (Dec 25, 2017)
      criteria provided, single submitter
      clinical testinggermline
        InvitaeSCV000259880.4
        Uncertain significance
        (Jun 14, 2016)
        criteria provided, single submitter
        clinical testinggermline
          Illumina Clinical Services Laboratory,IlluminaSCV000443335.2
          Likely benign
          (Dec 8, 2016)
          criteria provided, single submitter
          clinical testinggermline
            Quest Diagnostics Nichols Institute San Juan CapistranoSCV000601349.1
            Likely benign
            (Jul 27, 2016)
            criteria provided, single submitter
            clinical testing
            • Hereditary cancer-predisposing syndrome[MedGen]
            germline
              ColorSCV000684735.1
              Likely benign
              (Jun 23, 2017)
              criteria provided, single submitter
              clinical testinggermlineIntegrated Genetics/Laboratory Corporation of AmericaSCV000696103.1
              Likely benign
              (Oct 31, 2017)
              criteria provided, single submitter
              clinical testingunknownCounsylSCV000785682.2
              SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
              Total for all submittersnot provided1germline, unknownnot providednot provided
              Ambry Geneticsnot provided1germlinenot providednot providednot providednot provided
              Colornot providednot providedgermlinenot providednot providednot providednot provided
              Counsylnot providednot providedunknownnot providednot providednot provided
              GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered lik…Full description
              Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
              Integrated Genetics/Laboratory Corporation of Americanot providednot providedgermlinenot providednot providedVariant summary: The MLH1 c.12…Full description
              Invitaenot providednot providedgermlinenot providednot providednot providednot provided
              Quest Diagnostics Nichols Institute San Juan Capistranonot providednot providedgermlinenot providednot providednot providednot provided
              SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

              Last Updated: Mar 31, 2019

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