NM_000363.5(TNNI3):c.173A>G (p.Lys58Arg) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Mar 22, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000253395.2

Allele description [Variation Report for NM_000363.5(TNNI3):c.173A>G (p.Lys58Arg)]

NM_000363.5(TNNI3):c.173A>G (p.Lys58Arg)

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.173A>G (p.Lys58Arg)
HGVS:
  • NC_000019.10:g.55156310T>C
  • NG_007866.2:g.6423A>G
  • NM_000363.5:c.173A>GMANE SELECT
  • NP_000354.4:p.Lys58Arg
  • LRG_432t1:c.173A>G
  • LRG_432:g.6423A>G
  • NC_000019.9:g.55667678T>C
  • NM_000363.4:c.173A>G
Protein change:
K58R
Links:
dbSNP: rs878853955
NCBI 1000 Genomes Browser:
rs878853955
Molecular consequence:
  • NM_000363.5:c.173A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000318213Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Mar 22, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.

Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, et al.

Nat Genet. 1997 Aug;16(4):379-82.

PubMed [citation]
PMID:
9241277

Details of each submission

From Ambry Genetics, SCV000318213.5

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

Description

The p.K58R variant (also known as c.173A>G), located in coding exon 5 of the TNNI3 gene, results from an A to G substitution at nucleotide position 173. The lysine at codon 58 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 8, 2021

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