NM_001267550.2(TTN):c.84558_84559del (p.Ile28187fs) AND Primary dilated cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 1, 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:: RCV004775623.2

Allele description [Variation Report for NM_001267550.2(TTN):c.84558_84559del (p.Ile28187fs)]

NM_001267550.2(TTN):c.84558_84559del (p.Ile28187fs)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.84558_84559del (p.Ile28187fs)

HGVS:

NC_000002.12:g.178561573_178561574del
NG_011618.3:g.274229_274230del
NG_051363.1:g.43747_43748del
NM_001256850.1:c.79635_79636del
NM_001267550.2:c.84558_84559delMANE SELECT
NM_003319.4:c.57363_57364del
NM_133378.4:c.76854_76855del
NM_133432.3:c.57738_57739del
NM_133437.4:c.57939_57940del
NP_001243779.1:p.Ile26546fs
NP_001254479.1:p.Ile28187Trpfs
NP_001254479.2:p.Ile28187fs
NP_003310.4:p.Ile19122fs
NP_596869.4:p.Ile25619fs
NP_597676.3:p.Ile19247fs
NP_597681.4:p.Ile19314fs
LRG_391t1:c.84558_84559del
LRG_391:g.274229_274230del
LRG_391p1:p.Ile28187Trpfs
NC_000002.11:g.179426300_179426301del
NM_001267550.1:c.84558_84559delAA

Protein change:

I19122fs

Molecular consequence:

NM_001256850.1:c.79635_79636del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001267550.2:c.84558_84559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003319.4:c.57363_57364del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133378.4:c.76854_76855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133432.3:c.57738_57739del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133437.4:c.57939_57940del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV005200601	Lildballe Lab, Aarhus University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 1, 2024)	germline	research	PubMed (3) [See all records that cite these PMIDs] 25741943, 25741868, 39481677

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005200601

Lildballe Lab, Aarhus University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 1, 2024)

germline

research

PubMed (3)
[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	research

Citations

PubMed

Role of protein kinase A in regulating mitochondrial function and neuronal development: implications to neurodegenerative diseases.

Dagda RK, Das Banerjee T.

Rev Neurosci. 2015;26(3):359-70. doi: 10.1515/revneuro-2014-0085. Review.

PubMed [citation]

PMID:: 25741943
PMCID:: PMC4437841

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

See all PubMed Citations (3)

Details of each submission

From Lildballe Lab, Aarhus University Hospital, SCV005200601.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (3)

Description

PVS1(vs), PM2(sup)

#	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: Nov 18, 2024

ClinVar

Relating variation to medicine