NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter) AND Primary dilated cardiomyopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 31, 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:: RCV003237348.1

Allele description [Variation Report for NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter)]

NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter)

Genes:

LOC126806422:BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 [Gene]
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter)

HGVS:

NC_000002.12:g.178576081G>A
NG_011618.3:g.259722C>T
NG_051363.1:g.58255G>A
NM_001256850.1:c.65128C>T
NM_001267550.2:c.70051C>TMANE SELECT
NM_003319.4:c.42856C>T
NM_133378.4:c.62347C>T
NM_133432.3:c.43231C>T
NM_133437.4:c.43432C>T
NP_001243779.1:p.Arg21710Ter
NP_001254479.2:p.Arg23351Ter
NP_003310.4:p.Arg14286Ter
NP_596869.4:p.Arg20783Ter
NP_597676.3:p.Arg14411Ter
NP_597681.4:p.Arg14478Ter
LRG_391:g.259722C>T
NC_000002.11:g.179440808G>A
NM_003319.4:c.42856C>T

Protein change:

R14286*

Links:

dbSNP: rs1060500575

NCBI 1000 Genomes Browser:

rs1060500575

Molecular consequence:

NM_001256850.1:c.65128C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001267550.2:c.70051C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003319.4:c.42856C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133378.4:c.62347C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133432.3:c.43231C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133437.4:c.43432C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Primary dilated cardiomyopathy (DCM)
Synonyms:: Dilated Cardiomyopathy
Identifiers:: EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002817402	Center for Human Genetics, University of Leuven	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 31, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 34952434, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002817402

Center for Human Genetics, University of Leuven

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 31, 2022)

germline

clinical testing

PubMed (2)
[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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Generation of a human induced pluripotent stem cell line YCMi004-A from a patient with dilated cardiomyopathy carrying a protein-truncating mutation of the Titin gene and its differentiation towards cardiomyocytes.

Lee SH, Oh J, Lee ST, Won D, Kim S, Choi HK, Kim SJ, Han H, Yoon M, Choi JR, Yoon HG, Park SW, Kang SM, Lee SH.

Stem Cell Res. 2022 Mar;59:102629. doi: 10.1016/j.scr.2021.102629. Epub 2021 Dec 16.

PubMed [citation]

PMID:: 34952434

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 Center for Human Genetics, University of Leuven, SCV002817402.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Mar 5, 2025

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