NM_001267550.2(TTN):c.44149del (p.Thr14717fs) AND Dilated cardiomyopathy 1G

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 6, 2024
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:: RCV004764986.1

Allele description [Variation Report for NM_001267550.2(TTN):c.44149del (p.Thr14717fs)]

NM_001267550.2(TTN):c.44149del (p.Thr14717fs)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.44149del (p.Thr14717fs)

HGVS:

NC_000002.12:g.178630811del
NG_011618.3:g.204994del
NM_001256850.1:c.39226del
NM_001267550.2:c.44149delMANE SELECT
NM_003319.4:c.16954del
NM_133378.4:c.36445del
NM_133432.3:c.17329del
NM_133437.4:c.17530del
NP_001243779.1:p.Thr13076fs
NP_001254479.1:p.Thr14717Hisfs
NP_001254479.2:p.Thr14717fs
NP_003310.4:p.Thr5652fs
NP_596869.4:p.Thr12149fs
NP_597676.3:p.Thr5777fs
NP_597681.4:p.Thr5844fs
LRG_391t1:c.44147del
LRG_391:g.204994del
LRG_391p1:p.Thr14717Hisfs
NC_000002.11:g.179495538del
NM_001267550.1:c.44147delA
NM_003319.4:c.16954delA

Protein change:

T12149fs

Molecular consequence:

NM_001256850.1:c.39226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001267550.2:c.44149del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003319.4:c.16954del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133378.4:c.36445del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133432.3:c.17329del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133437.4:c.17530del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Dilated cardiomyopathy 1G (CMD1G)
Identifiers:: MONDO: MONDO:0011400; MedGen: C1858763; Orphanet: 154; OMIM: 604145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005375141	Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere	no assertion criteria provided	Likely pathogenic (Jan 6, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005375141

Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere

no assertion criteria provided

Likely pathogenic
(Jan 6, 2024)

germline

clinical testing

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

Details of each submission

From Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere, SCV005375141.1

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

Last Updated: Oct 26, 2024

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