NM_000363.5(TNNI3):c.293G>A (p.Arg98Gln) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 4, 2023
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:: RCV003302755.2

Allele description [Variation Report for NM_000363.5(TNNI3):c.293G>A (p.Arg98Gln)]

NM_000363.5(TNNI3):c.293G>A (p.Arg98Gln)

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.293G>A (p.Arg98Gln)

HGVS:

NC_000019.10:g.55154820C>T
NG_007866.2:g.7913G>A
NM_000363.5:c.293G>AMANE SELECT
NP_000354.4:p.Arg98Gln
LRG_432t1:c.293G>A
LRG_432:g.7913G>A
NC_000019.9:g.55666188C>T
NM_000363.4:c.293G>A

Protein change:

R98Q

Links:

dbSNP: rs747522089

NCBI 1000 Genomes Browser:

rs747522089

Molecular consequence:

NM_000363.5:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003990499	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 4, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003990499

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 4, 2023)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians.

Rani DS, Nallari P, Priyamvada S, Narasimhan C, Singh L, Thangaraj K.

BMC Med Genet. 2012 Aug 10;13:69. doi: 10.1186/1471-2350-13-69.

PubMed [citation]

PMID:: 22876777
PMCID:: PMC3495047

Details of each submission

From Ambry Genetics, SCV003990499.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The p.R98Q variant (also known as c.293G>A), located in coding exon 6 of the TNNI3 gene, results from a G to A substitution at nucleotide position 293. The arginine at codon 98 is replaced by glutamine, an amino acid with highly similar properties. This variant has been detected in an individual with hypertrophic obstructive cardiomyopathy (Rani DS et al. BMC Med Genet, 2012 Aug;13:69). 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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