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NM_000363.5(TNNI3):c.586G>T (p.Asp196Tyr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 24, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004678619.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.586G>T (p.Asp196Tyr)]

NM_000363.5(TNNI3):c.586G>T (p.Asp196Tyr)

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.586G>T (p.Asp196Tyr)
HGVS:
  • NC_000019.10:g.55151881C>A
  • NG_007866.2:g.10852G>T
  • NG_011829.2:g.2358G>T
  • NM_000363.5:c.586G>TMANE SELECT
  • NP_000354.4:p.Asp196Tyr
  • LRG_432t1:c.586G>T
  • LRG_432:g.10852G>T
  • LRG_679:g.2358G>T
  • NC_000019.9:g.55663249C>A
  • NM_000363.4:c.586G>T
Protein change:
D196Y
Links:
dbSNP: rs104894727
NCBI 1000 Genomes Browser:
rs104894727
Molecular consequence:
  • NM_000363.5:c.586G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005174022Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 24, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005174022.1

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

Description

The p.D196Y variant (also known as c.586G>T), located in coding exon 8 of the TNNI3 gene, results from a G to T substitution at nucleotide position 586. The aspartic acid at codon 196 is replaced by tyrosine, an amino acid with highly dissimilar properties. Another variant at the same codon, p.D196N (c.586G>A), has been identified in multiple individuals with hypertrophic cardiomyopathy (HCM) (Niimura H et al. Circulation, 2002 Jan;105:446-51; Richard P et al. Circulation, 2003 May;107:2227-32; Mogensen J et al. J. Am. Coll. Cardiol., 2004 Dec;44:2315-25; Berge KE et al. Clin. Genet., 2014 Oct;86:355-60; Coppini R et al. J. Am. Coll. Cardiol., 2014 Dec;64:2589-2600; Murphy SL et al. J Cardiovasc Transl Res, 2016 Apr;9:153-61; Walsh R et al. Genet. Med., 2017 02;19:192-203). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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

Last Updated: Sep 29, 2024