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NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 2, 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:
RCV002424962.2

Allele description [Variation Report for NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys)]

NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys)

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.220C>T (p.Arg74Cys)
HGVS:
  • NC_000019.10:g.55156263G>A
  • NG_007866.2:g.6470C>T
  • NM_000363.5:c.220C>TMANE SELECT
  • NP_000354.4:p.Arg74Cys
  • LRG_432t1:c.220C>T
  • LRG_432:g.6470C>T
  • NC_000019.9:g.55667631G>A
  • NM_000363.4:c.220C>T
Protein change:
R74C
Links:
dbSNP: rs375795196
NCBI 1000 Genomes Browser:
rs375795196
Molecular consequence:
  • NM_000363.5:c.220C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002730802Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 2, 2019) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Novel mutations in beta-myosin heavy chain, actin and troponin-I genes associated with dilated cardiomyopathy in Indian population.

Boda U, Vadapalli S, Calambur N, Nallari P.

J Genet. 2009 Dec;88(3):373-7. No abstract available.

PubMed [citation]
PMID:
20086309

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

Cecconi M, Parodi MI, Formisano F, Spirito P, Autore C, Musumeci MB, Favale S, Forleo C, Rapezzi C, Biagini E, Davì S, Canepa E, Pennese L, Castagnetta M, Degiorgio D, Coviello DA.

Int J Mol Med. 2016 Oct;38(4):1111-24. doi: 10.3892/ijmm.2016.2732. Epub 2016 Sep 7.

PubMed [citation]
PMID:
27600940
PMCID:
PMC5029966
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002730802.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.R74C variant (also known as c.220C>T), located in coding exon 5 of the TNNI3 gene, results from a C to T substitution at nucleotide position 220. The arginine at codon 74 is replaced by cysteine, an amino acid with highly dissimilar properties. Other variants affecting this codon (p.R74P, p.R74G and p.R74S) have been reported in cardiomyopathy cohorts; however, details were limited (Boda U et al. J. Genet., 2009 Dec;88:373-7; Cecconi M et al. Int. J. Mol. Med., 2016 Oct;38:1111-24; Hayashi T et al. J. Hum. Genet., 2018 Sep;63:989-996). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024