NM_001267550.2(TTN):c.74242del (p.Thr24748fs) AND Primary dilated cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 21, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003233309.1

Allele description [Variation Report for NM_001267550.2(TTN):c.74242del (p.Thr24748fs)]

NM_001267550.2(TTN):c.74242del (p.Thr24748fs)

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.74242del (p.Thr24748fs)

Other names:

NP_001254479.2:p.(Thr24748ProfsTer9)

HGVS:

NC_000002.12:g.178571891del
NG_011618.3:g.263913del
NG_051363.1:g.54065del
NM_001256850.1:c.69319del
NM_001267550.2:c.74242delMANE SELECT
NM_003319.4:c.47047del
NM_133378.4:c.66538del
NM_133432.3:c.47422del
NM_133437.4:c.47623del
NP_001243779.1:p.Thr23107fs
NP_001254479.1:p.Thr24748Profs
NP_001254479.2:p.Thr24748fs
NP_003310.4:p.Thr15683fs
NP_596869.4:p.Thr22180fs
NP_597676.3:p.Thr15808fs
NP_597681.4:p.Thr15875fs
LRG_391t1:c.74241del
LRG_391:g.263913del
LRG_391p1:p.Thr24748Profs
NC_000002.11:g.179436618del
NM_001267550.1:c.74241delA

Protein change:

T15683fs

Molecular consequence:

NM_001256850.1:c.69319del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001267550.2:c.74242del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003319.4:c.47047del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133378.4:c.66538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133432.3:c.47422del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133437.4:c.47623del - 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

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
SCV003932087	Research Unit of Cardiovascular and Metabolic Disease, Inserm	no assertion criteria provided	Likely pathogenic (Jul 21, 2022)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003932087

Research Unit of Cardiovascular and Metabolic Disease, Inserm

no assertion criteria provided

Likely pathogenic
(Jul 21, 2022)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Research Unit of Cardiovascular and Metabolic Disease, Inserm, SCV003932087.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Apr 6, 2024

ClinVar

Relating variation to medicine