NM_000248.3(MITF):c.952G>A (p.Glu318Lys)

Variation ID: Help
29792
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000248.3(MITF):c.952G>A (p.Glu318Lys)

Allele ID:
38747
Variant type:
single nucleotide variant
Cytogenetic location:
3p13
Genomic location:
  • Chr3: 69964940 (on Assembly GRCh38)
  • Chr3: 70014091 (on Assembly GRCh37)
Protein change:
E318K, E419K
HGVS:
  • NG_011631.1:g.230459G>A
  • NM_000248.3:c.952G>A
  • NM_198159.2:c.1255G>A
  • NP_000239.1:p.Glu318Lys
  • NP_937802.1:p.Glu419Lys
  • NC_000003.12:g.69964940G>A (GRCh38)
  • LRG_776t1:c.952G>A
  • NC_000003.11:g.70014091G>A (GRCh37)
  • LRG_776p1:p.Glu318Lys
  • LRG_776:g.230459G>A
Links:
NCBI 1000 Genomes Browser:
rs149617956
Molecular consequence:
NM_000248.3:c.952G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00223 (A)
  • GMAF 0.00080 (A)
  • ExAC 0.00133 (A)

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
(Dec 20, 2013)
criteria provided, single submitter
clinical testing
  • Hereditary cancer-predisposing syndrome[MedGen]
germline
    Ambry GeneticsSCV000184481.1
    Uncertain significance
    (Oct 7, 2015)
    criteria provided, single submitter
    clinical testinggermlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000271977.1
    Pathogenic
    (Jan 19, 2017)
    criteria provided, single submitter
    clinical testinggermline
      InvitaeSCV000283992.2
      Likely benigncriteria provided, single submitter
      clinical testinggermline
        PreventionGeneticsSCV000303141.1
        Pathogenic
        (Jan 23, 2017)
        criteria provided, single submitter
        clinical testinggermline
          GeneDxSCV000568597.2
          risk factor
          (Nov 13, 2011)
          no assertion criteria providedliterature onlygermlineOMIMSCV000043950.2
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submitters22germlinenot providednot provided
          Ambry Geneticsnot providednot providedgermlinenot providednot providednot providednot provided
          GeneDxnot providednot providedgermlinenot providednot providednot providedThis pathogenic variant is den…Full description
          Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
          Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine22germlinenot providednot providedThe p.Glu419Lys variant in MIT…Full description
          OMIMnot providednot providedgermlinenot providednot providednot provided
          PreventionGeneticsnot providednot providedgermlinenot providednot providednot providednot provided
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: Nov 30, 2017