NM_001267550.2(TTN):c.73827del (p.Glu24609fs) AND Primary dilated cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 10, 2012
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:: RCV000040593.5

Allele description [Variation Report for NM_001267550.2(TTN):c.73827del (p.Glu24609fs)]

NM_001267550.2(TTN):c.73827del (p.Glu24609fs)

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.73827del (p.Glu24609fs)

HGVS:

NC_000002.12:g.178572306del
NG_011618.3:g.263498del
NG_051363.1:g.54480del
NM_001256850.1:c.68904del
NM_001267550.2:c.73827delMANE SELECT
NM_003319.4:c.46632del
NM_133378.4:c.66123del
NM_133432.3:c.47007del
NM_133437.4:c.47208del
NP_001243779.1:p.Glu22968fs
NP_001254479.2:p.Glu24609fs
NP_003310.4:p.Glu15544fs
NP_596869.4:p.Glu22041fs
NP_597676.3:p.Glu15669fs
NP_597681.4:p.Glu15736fs
LRG_391:g.263498del
NC_000002.11:g.179437032delT
NC_000002.11:g.179437033del
NM_133378.4:c.66123delA
c.66123delA
p.Glu22041AspfsX3

Protein change:

E15544fs

Links:

dbSNP: rs397517695

NCBI 1000 Genomes Browser:

rs397517695

Molecular consequence:

NM_001256850.1:c.68904del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001267550.2:c.73827del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003319.4:c.46632del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133378.4:c.66123del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133432.3:c.47007del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133437.4:c.47208del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV000064284	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	no assertion criteria provided	Likely pathogenic (Sep 10, 2012)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000064284

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

no assertion criteria provided

Likely pathogenic
(Sep 10, 2012)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000064284.6

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

Description

The Glu22041fs variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 22041 and lead to a pre mature termination codon 3 amino acids downstream. Heterozygous loss of function of the TTN gene is strongly associated with DCM (Herman 2012). In summary, the Glu22041fs variant is likely pathogenic, though additional studies are required to fully establish its clinical significance.

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

Last Updated: Apr 6, 2024

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