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NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 11, 2019
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:
RCV000620207.2

Allele description [Variation Report for NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln)]

NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln)

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.557G>A (p.Arg186Gln)
HGVS:
  • NC_000019.10:g.55151910C>T
  • NG_007866.2:g.10823G>A
  • NG_011829.2:g.2329G>A
  • NM_000363.5:c.557G>AMANE SELECT
  • NP_000354.4:p.Arg186Gln
  • LRG_432t1:c.557G>A
  • LRG_432:g.10823G>A
  • LRG_679:g.2329G>A
  • NC_000019.9:g.55663278C>T
  • NM_000363.4:c.557G>A
  • P19429:p.Arg186Gln
  • c.557G>A
Protein change:
R186Q
Links:
UniProtKB: P19429#VAR_019876; dbSNP: rs397516357
NCBI 1000 Genomes Browser:
rs397516357
Molecular consequence:
  • NM_000363.5:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000736237Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Mar 11, 2019) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M; EUROGENE Heart Failure Project..

Circulation. 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. Erratum in: Circulation. 2004 Jun 29;109(25):3258.

PubMed [citation]
PMID:
12707239

Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.

Mogensen J, Murphy RT, Kubo T, Bahl A, Moon JC, Klausen IC, Elliott PM, McKenna WJ.

J Am Coll Cardiol. 2004 Dec 21;44(12):2315-25.

PubMed [citation]
PMID:
15607392
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000736237.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (7)

Description

The p.R186Q pathogenic mutation (also known as c.557G>A), located in coding exon 8 of the TNNI3 gene, results from a G to A substitution at nucleotide position 557. The arginine at codon 186 is replaced by glutamine, an amino acid with highly similar properties. This alteration has been reported in association with hypertrophic cardiomyopathy (HCM) in multiple individuals (Richard P, Circulation 2003 May; 107(17):2227-32; Millat G, Eur J Med Genet 2010; 53(5):261-7; Roberts WC, Am. J. Cardiol. 2013 Jun; 111(12):1818-22; Lopes LR, Heart 2015 Feb; 101(4):294-301). In addition, this alteration has been shown to segregate with disease across two families (Mogensen J, J. Am. Coll. Cardiol. 2004 Dec; 44(12):2315-25; Wang C, Mol. Genet. Genomics 2016 Feb; 291(1):79-92). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024