NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter) AND Primary familial dilated cardiomyopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 30, 2016
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:: RCV000624039.2

Allele description [Variation Report for NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter)]

NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter)

HGVS:

NC_000002.12:g.178552194C>A
NG_011618.3:g.283609G>T
NG_051363.1:g.34368C>A
NM_001256850.1:c.85783G>T
NM_001267550.2:c.90706G>TMANE SELECT
NM_003319.4:c.63511G>T
NM_133378.4:c.83002G>T
NM_133432.3:c.63886G>T
NM_133437.4:c.64087G>T
NP_001243779.1:p.Glu28595Ter
NP_001254479.2:p.Glu30236Ter
NP_003310.4:p.Glu21171Ter
NP_596869.4:p.Glu27668Ter
NP_597676.3:p.Glu21296Ter
NP_597681.4:p.Glu21363Ter
LRG_391:g.283609G>T
NC_000002.11:g.179416921C>A

Protein change:

E21171*

Links:

dbSNP: rs974510652

NCBI 1000 Genomes Browser:

rs974510652

Molecular consequence:

NM_001256850.1:c.85783G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001267550.2:c.90706G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003319.4:c.63511G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133378.4:c.83002G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133432.3:c.63886G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133437.4:c.64087G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Primary familial dilated cardiomyopathy (FDC)
Synonyms:: Familial dilated cardiomyopathy; Hypokinetic dilated cardiomyopathy, familial
Identifiers:: MONDO: MONDO:0016333; MedGen: C0340427; Orphanet: 217607; OMIM: PS115200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000740471	Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 30, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000740471

Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 30, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

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

Details of each submission

From Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute, SCV000740471.1

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

#	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: Apr 6, 2024

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