NM_001267550.2(TTN):c.106578_106580delinsAGT (p.Glu35527Val) AND Cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 13, 2019
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:: RCV001171219.2

Allele description [Variation Report for NM_001267550.2(TTN):c.106578_106580delinsAGT (p.Glu35527Val)]

NM_001267550.2(TTN):c.106578_106580delinsAGT (p.Glu35527Val)

Genes:

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

Variant type:

Indel

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.106578_106580delinsAGT (p.Glu35527Val)

HGVS:

NC_000002.12:g.178529171_178529173delinsACT
NG_011618.3:g.306630_306632delinsAGT
NG_051363.1:g.11345_11347delinsACT
NM_001256850.1:c.101655_101657delinsAGT
NM_001267550.2:c.106578_106580delinsAGTMANE SELECT
NM_003319.4:c.79383_79385delinsAGT
NM_133378.4:c.98874_98876delinsAGT
NM_133432.3:c.79758_79760delinsAGT
NM_133437.4:c.79959_79961delinsAGT
NP_001243779.1:p.Glu33886Val
NP_001254479.2:p.Glu35527Val
NP_003310.4:p.Glu26462Val
NP_596869.4:p.Glu32959Val
NP_597676.3:p.Glu26587Val
NP_597681.4:p.Glu26654Val
LRG_391:g.306630_306632delinsAGT
NC_000002.11:g.179393898_179393900delinsACT
NM_001267550.2:c.106578_106580delinsAGT
NM_003319.4:c.79383_79385delTGAinsAGT

Protein change:

E26462V

Links:

dbSNP: rs386653129

NCBI 1000 Genomes Browser:

rs386653129

Molecular consequence:

NM_001256850.1:c.101655_101657delinsAGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.106578_106580delinsAGT - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.79383_79385delinsAGT - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.98874_98876delinsAGT - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.79758_79760delinsAGT - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.79959_79961delinsAGT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001333921	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 13, 2019)	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

SCV001333921

CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 13, 2019)

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	unknown	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 CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV001333921.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 29, 2024

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