NM_014845.5(FIG4):c.122T>C (p.Ile41Thr)

Variation ID: Help
1721
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_014845.5(FIG4):c.122T>C (p.Ile41Thr)

Allele ID:
16760
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
  • Chr6: 109715133 (on Assembly GRCh38)
  • Chr6: 110036336 (on Assembly GRCh37)
Protein change:
I41T
HGVS:
  • NG_007977.1:g.28913T>C
  • NM_014845.5:c.122T>C
  • NP_055660.1:p.Ile41Thr
  • NC_000006.12:g.109715133T>C (GRCh38)
  • LRG_241t1:c.122T>C
  • NC_000006.11:g.110036336T>C (GRCh37)
  • NM_014845.5:c.[122T>C]
  • Q92562:p.Ile41Thr
  • LRG_241p1:p.Ile41Thr
  • LRG_241:g.28913T>C
Links:
NCBI 1000 Genomes Browser:
rs121908287
Molecular consequence:
NM_014845.5:c.122T>C: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00115 (C)
  • GMAF 0.00080 (C)
  • ExAC 0.00099 (C)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Nov 29, 2016)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000278978.7
    Pathogenic
    (Sep 13, 2016)
    criteria provided, single submitter
    research
    • Amyotrophic lateral sclerosis type 11[MedGen | OMIM]
    germlineWeber Lab,Hannover Medical SchoolSCV000299294.1
    Pathogenic
    (Jan 17, 2017)
    criteria provided, single submitter
    clinical testing
    • Charcot-Marie-Tooth disease, type IV[MedGen]
    germline
      InvitaeSCV000546063.1
      Pathogenic
      (Jul 7, 2016)
      criteria provided, single submitter
      clinical testinggermline
        ARUP Laboratories, Molecular Genetics and GenomicsSCV000603714.1
        Pathogenic
        (Jul 1, 2011)
        no assertion criteria providedliterature onlygermlineOMIMSCV000021947.3
        Pathogenic
        (Sep 13, 2012)
        no assertion criteria providedliterature onlynot providedGeneReviewsSCV000054640.1
        Benignno assertion criteria providedliterature onlynot provided
          Northcott Neuroscience Laboratory, ANZAC Research InstituteSCV000188705.1
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot providednot providedgermline, not providedCentral EuropeItaly
          ARUP Laboratories, Molecular Genetics and Genomicsnot providednot providedgermlinenot providednot providednot providednot provided
          GeneDxnot providednot providedgermlinenot providednot providednot providedhe I41T pathogenic variant in …Full description
          GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
          Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
          Northcott Neuroscience Laboratory, ANZAC Research Institutenot providednot providednot providednot providednot providednot providedConverted during submission to…Full description
          OMIMnot providednot providedgermlinenot providednot providednot provided
          Weber Lab,Hannover Medical Schoolnot providednot providedgermlineCentral EuropeItalynot provided
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: Nov 20, 2017