NM_000363.5(TNNI3):c.575G>T (p.Arg192Leu) AND Hypertrophic cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Feb 13, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000154466.2

Allele description [Variation Report for NM_000363.5(TNNI3):c.575G>T (p.Arg192Leu)]

NM_000363.5(TNNI3):c.575G>T (p.Arg192Leu)

Gene:
TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_000363.5(TNNI3):c.575G>T (p.Arg192Leu)
HGVS:
  • NC_000019.10:g.55151892C>A
  • NG_007866.2:g.10841G>T
  • NG_011829.2:g.2347G>T
  • NM_000363.5:c.575G>TMANE SELECT
  • NP_000354.4:p.Arg192Leu
  • LRG_432t1:c.575G>T
  • LRG_432:g.10841G>T
  • LRG_679:g.2347G>T
  • NC_000019.9:g.55663260C>A
  • NM_000363.4:c.575G>T
Protein change:
R192L
Links:
dbSNP: rs104894729
NCBI 1000 Genomes Browser:
rs104894729
Molecular consequence:
  • NM_000363.5:c.575G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hypertrophic cardiomyopathy
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; OMIM: PS192600; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000204135Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicineno assertion criteria providedLikely pathogenic
(Feb 13, 2013)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000204135.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

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