NM_000363.5(TNNI3):c.611G>A (p.Arg204His) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 5, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000159249.5

Allele description [Variation Report for NM_000363.5(TNNI3):c.611G>A (p.Arg204His)]

NM_000363.5(TNNI3):c.611G>A (p.Arg204His)

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.611G>A (p.Arg204His)
Other names:
p.R204H:CGC>CAC
HGVS:
  • NC_000019.10:g.55151856C>T
  • NG_007866.2:g.10877G>A
  • NG_011829.2:g.2383G>A
  • NM_000363.5:c.611G>AMANE SELECT
  • NP_000354.4:p.Arg204His
  • LRG_432t1:c.611G>A
  • LRG_432:g.10877G>A
  • LRG_679:g.2383G>A
  • NC_000019.9:g.55663224C>T
  • NM_000363.4:c.611G>A
  • P19429:p.Arg204His
Protein change:
R204H
Links:
UniProtKB: P19429#VAR_042746; dbSNP: rs727504275
NCBI 1000 Genomes Browser:
rs727504275
Molecular consequence:
  • NM_000363.5:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000209195GeneDxcriteria provided, single submitter
Pathogenic
(Mar 5, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000209195.13

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed in large population cohorts (Lek et al., 2016); Functional studies demonstrated that R204H results in decreased interaction between cardiac troponin I and cardiac troponin C and T (Doolan et al., 2005; Nguyen et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15698845, 16199542, 18801787, 27895589, 20617149, 27930701, 20569525, 27532257, 24322056, 29176140, 31912959, 31737537)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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