NM_001267550.2(TTN):c.49813del (p.Val16605fs) AND Primary dilated cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 29, 2014
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:: RCV000157575.1

Allele description [Variation Report for NM_001267550.2(TTN):c.49813del (p.Val16605fs)]

NM_001267550.2(TTN):c.49813del (p.Val16605fs)

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.49813del (p.Val16605fs)

HGVS:

NC_000002.12:g.178612911del
NG_011618.3:g.222895del
NG_051363.1:g.95085del
NM_001256850.1:c.44890del
NM_001267550.2:c.49813delMANE SELECT
NM_003319.4:c.22618del
NM_133378.4:c.42109del
NM_133432.3:c.22993del
NM_133437.4:c.23194del
NP_001243779.1:p.Val14964fs
NP_001254479.2:p.Val16605fs
NP_003310.4:p.Val7540fs
NP_596869.4:p.Val14037fs
NP_597676.3:p.Val7665fs
NP_597681.4:p.Val7732fs
LRG_391t1:c.49813del
LRG_391:g.222895del
NC_000002.11:g.179477638del
NM_001267550.1:c.49813delG

Protein change:

V14037fs

Links:

dbSNP: rs730880245

NCBI 1000 Genomes Browser:

rs730880245

Molecular consequence:

NM_001256850.1:c.44890del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001267550.2:c.49813del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003319.4:c.22618del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133378.4:c.42109del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133432.3:c.22993del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133437.4:c.23194del - 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
SCV000207321	Blueprint Genetics	no assertion criteria provided	Likely pathogenic (Sep 29, 2014)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000207321

Blueprint Genetics

no assertion criteria provided

Likely pathogenic
(Sep 29, 2014)

germline

clinical testing

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	clinical testing

Details of each submission

From Blueprint Genetics, SCV000207321.1

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

Last Updated: Apr 6, 2024

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