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NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 23, 2022
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:
RCV002453556.1

Allele description

NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile)

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.356C>T (p.Thr119Ile)
Other names:
p.T119I:ACC>ATC
HGVS:
  • NC_000019.10:g.55154757G>A
  • NG_007866.2:g.7976C>T
  • NM_000363.5:c.356C>TMANE SELECT
  • NP_000354.4:p.Thr119Ile
  • LRG_432t1:c.356C>T
  • LRG_432:g.7976C>T
  • NC_000019.9:g.55666125G>A
  • NM_000363.4:c.356C>T
Protein change:
T119I
Links:
dbSNP: rs184709702
NCBI 1000 Genomes Browser:
rs184709702
Molecular consequence:
  • NM_000363.5:c.356C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV002613155Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Mar 23, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002613155.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.T119I variant (also known as c.356C>T), located in coding exon 6 of the TNNI3 gene, results from a C to T substitution at nucleotide position 356. The threonine at codon 119 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 7, 2023