NM_001276345.2(TNNT2):c.852-3C>A AND Cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 17, 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:: RCV004007473.2

Allele description [Variation Report for NM_001276345.2(TNNT2):c.852-3C>A]

NM_001276345.2(TNNT2):c.852-3C>A

Gene:

TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

Preferred name:

NM_001276345.2(TNNT2):c.852-3C>A

HGVS:

NC_000001.11:g.201359258G>T
NG_007556.1:g.23420C>A
NM_000364.4:c.843-3C>A
NM_001001430.3:c.822-3C>A
NM_001001431.3:c.813-3C>A
NM_001001432.3:c.804-3C>A
NM_001276345.2:c.852-3C>AMANE SELECT
NM_001276346.2:c.723-3C>A
NM_001276347.2:c.822-3C>A
LRG_431t1:c.852-3C>A
LRG_431:g.23420C>A
NC_000001.10:g.201328386G>T
NM_000364.3:c.843-3C>A

Molecular consequence:

NM_000364.4:c.843-3C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001001430.3:c.822-3C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001001431.3:c.813-3C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001001432.3:c.804-3C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001276345.2:c.852-3C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001276346.2:c.723-3C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001276347.2:c.822-3C>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004829184	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Sep 17, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 23396983, 25351510, 25849606, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004829184

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Sep 17, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	108544	not provided	clinical testing

Citations

PubMed

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Lopes LR, Zekavati A, Syrris P, Hubank M, Giambartolomei C, Dalageorgou C, Jenkins S, McKenna W; Uk10k Consortium, Plagnol V, Elliott PM.

J Med Genet. 2013 Apr;50(4):228-39. doi: 10.1136/jmedgenet-2012-101270. Epub 2013 Feb 8.

PubMed [citation]

PMID:: 23396983
PMCID:: PMC3607113

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM.

Heart. 2015 Feb;101(4):294-301. doi: 10.1136/heartjnl-2014-306387. Epub 2014 Oct 28.

PubMed [citation]

PMID:: 25351510
PMCID:: PMC4345808

See all PubMed Citations (4)

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV004829184.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

Description

This variant causes a C to A nucleotide substitution at the -3 position of intron 15 of the TNNT2 gene. Splice site prediction tools suggest that this variant may have a significant impact on RNA splicing. A functional mini-gene assay has shown that this variant may cause abnormal splicing (PMID: 25849606). This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 23396983, 25351510) and in an individual affected with cardiomyopathy (PMID: 25849606). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine