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NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2016
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:
RCV002354394.2

Allele description [Variation Report for NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu)]

NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu)

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.577A>G (p.Lys193Glu)
Other names:
p.K193E:AAG>GAG
HGVS:
  • NC_000019.10:g.55151890T>C
  • NG_007866.2:g.10843A>G
  • NG_011829.2:g.2349A>G
  • NM_000363.5:c.577A>GMANE SELECT
  • NP_000354.4:p.Lys193Glu
  • LRG_432t1:c.577A>G
  • LRG_432:g.10843A>G
  • LRG_679:g.2349A>G
  • NC_000019.9:g.55663258T>C
  • NM_000363.4:c.577A>G
Protein change:
K193E
Links:
dbSNP: rs730881080
NCBI 1000 Genomes Browser:
rs730881080
Molecular consequence:
  • NM_000363.5:c.577A>G - 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
SCV002653105Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 14, 2016) 		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, SCV002653105.2

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

Description

The p.K193E variant (also known as c.577A>G), located in coding exon 8 of the TNNI3 gene, results from an A to G substitution at nucleotide position 577. The lysine at codon 193 is replaced by glutamic acid, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs730881080. This variant was not reported in population based cohorts in the following databases: NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6130 samples (12260 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024