NM_001276345.2(TNNT2):c.419G>T (p.Arg140Leu) AND Cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 11, 2024
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:: RCV004016897.2

Allele description [Variation Report for NM_001276345.2(TNNT2):c.419G>T (p.Arg140Leu)]

NM_001276345.2(TNNT2):c.419G>T (p.Arg140Leu)

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.419G>T (p.Arg140Leu)

HGVS:

NC_000001.11:g.201364368C>A
NG_007556.1:g.18310G>T
NM_000364.4:c.419G>T
NM_001001430.3:c.389G>T
NM_001001431.3:c.389G>T
NM_001001432.3:c.374G>T
NM_001276345.2:c.419G>TMANE SELECT
NM_001276346.2:c.299G>T
NM_001276347.2:c.389G>T
NM_001406723.1:c.419G>T
NM_001406724.1:c.389G>T
NM_001406725.1:c.386G>T
NM_001406726.1:c.389G>T
NM_001406727.1:c.389G>T
NM_001406728.1:c.374G>T
NP_000355.2:p.Arg140Leu
NP_001001430.1:p.Arg130Leu
NP_001001431.1:p.Arg130Leu
NP_001001432.1:p.Arg125Leu
NP_001263274.1:p.Arg140Leu
NP_001263275.1:p.Arg100Leu
NP_001263276.1:p.Arg130Leu
NP_001393652.1:p.Arg140Leu
NP_001393653.1:p.Arg130Leu
NP_001393654.1:p.Arg129Leu
NP_001393655.1:p.Arg130Leu
NP_001393656.1:p.Arg130Leu
NP_001393657.1:p.Arg125Leu
LRG_431t1:c.419G>T
LRG_431:g.18310G>T
LRG_431p1:p.Arg140Leu
NC_000001.10:g.201333496C>A

Protein change:

R100L

Molecular consequence:

NM_000364.4:c.419G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001001430.3:c.389G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001001431.3:c.389G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001001432.3:c.374G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276345.2:c.419G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276346.2:c.299G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276347.2:c.389G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406723.1:c.419G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406724.1:c.389G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406725.1:c.386G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406726.1:c.389G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406727.1:c.389G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406728.1:c.374G>T - missense variant - [Sequence Ontology: SO:0001583]

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

interferon alpha/beta receptor 2 [Phyllostomus discolor]
interferon alpha/beta receptor 2 [Phyllostomus discolor]
gi|1899640807|ref|XP_028359692.2|

Protein
The expression levels of genes on trisomic chromosomes (chromosome 13, 18 or 21)...
The expression levels of genes on trisomic chromosomes (chromosome 13, 18 or 21) are increased approximately 1.5-fold on average compared with diploid cells
The expression levels of genes on trisomic chromosomes (chromosome 13, 18 or 21) are increased approximately 1.5-fold on average compared with diploid cells

BioProject

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
SCV004834516	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Jan 11, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004834516

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Jan 11, 2024)

germline

clinical testing

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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV004834516.1

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

#	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