Click here to see the new Variation Report design!

NM_001001430.2(TNNT2):c.281G>A (p.Arg94His)

Variation ID: Help
43628
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001001430.2(TNNT2):c.281G>A (p.Arg94His)

Allele ID:
52797
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
  • Chr1: 201365291 (on Assembly GRCh38)
  • Chr1: 201334419 (on Assembly GRCh37)
Other names:
  • p.R94H:CGC>CAC
Protein change:
R104H, R94H
HGVS:
  • NG_007556.1:g.17387G>A
  • NM_000364.3:c.311G>A
  • NM_001001430.2:c.281G>A
  • NM_001276346.1:c.291+319G>A
  • NP_000355.2:p.Arg104His
  • NP_001001430.1:p.Arg94His
  • NC_000001.11:g.201365291C>T (GRCh38)
  • NC_000001.10:g.201334419C>T (GRCh37)
  • NM_001001430.1:c.281G>A
Links:
dbSNP: 397516457
NCBI 1000 Genomes Browser:
rs397516457
Molecular consequence:
  • NM_001001430.2:c.281G>A: missense variant SO:0001583
  • NM_001276346.1:c.291+319G>A: intron variant SO:0001627

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
(Jun 19, 2017)
criteria provided, single submitter
clinical testinggermlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000060230.5
Pathogenic
(May 11, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000209229.10
    Pathogenic
    (Nov 19, 2015)
    criteria provided, single submitter
    clinical testing
    • Familial hypertrophic cardiomyopathy 2[MedGen | OMIM]
    germline
      InvitaeSCV000285649.1
      Likely pathogenic
      (May 25, 2016)
      criteria provided, single submitter
      clinical testing
      • Cardiovascular phenotype[MedGen]
      germlineAmbry GeneticsSCV000739953.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submitters57germlinenot providednot provided
      Ambry Geneticsnot provided1germlinenot providednot providedLines of evidence used in supp…Full description
      GeneDxnot providednot providedgermlinenot providednot providednot providedThe R94H pathogenic variant in…Full description
      Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
      Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine56germlinenot providednot providedThe p.Arg94His variant in TNNT…Full description
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Apr 14, 2018