NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 21, 2012
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:: RCV000159216.2

Allele description [Variation Report for NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile)]

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]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000209162	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Aug 21, 2012)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000209162

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Aug 21, 2012)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000209162.10

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

Description

The Thr119Ile variant in the TNNI3 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Thr119Ile results in a semi-conservative amino acid substitution of a neutral, polar Threonine to a non-polar Isoleucine at a position that is moderately conserved across species. In silico analysis predicts Thr119Ile is benign to the protein structure/function. However, nearby mutations (Ala116Gly, Asp127Tyr) have been reported in association with cardiomyopathy, supporting the functional significance of this region of the protein. In addition, the NHLBI ESP Exome Variant Server reports Thr119Ile was not observed in approximately 6000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations.The variant is found in DCM panel(s).

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

Last Updated: May 1, 2024

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