NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 4, 2022
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:: RCV000622018.3

Allele description [Variation Report for NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del)]

NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del)

Genes:

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

Variant type:

Microsatellite

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del)

HGVS:

NC_000002.12:g.178559398CTT[1]
NG_011618.3:g.276400AAG[1]
NG_051363.1:g.41572CTT[1]
NM_001256850.1:c.81806AAG[1]
NM_001256850.1:c.81809_81811del
NM_001267550.2:c.86729AAG[1]MANE SELECT
NM_003319.4:c.59534AAG[1]
NM_133378.4:c.79025AAG[1]
NM_133432.3:c.59909AAG[1]
NM_133437.4:c.60110AAG[1]
NP_001243779.1:p.Glu27270del
NP_001254479.2:p.Glu28911del
NP_003310.4:p.Glu19846del
NP_596869.4:p.Glu26343del
NP_597676.3:p.Glu19971del
NP_597681.4:p.Glu20038del
LRG_391:g.276400AAG[1]
NC_000002.11:g.179424125CTT[1]
NC_000002.11:g.179424125_179424127delCTT
NM_001256850.1:c.81809_81811del
NM_001256850.1:c.81809_81811delAAG
NM_001267550.2:c.86732_86734delMANE SELECT
NM_001267550.2:c.86732_86734delAAGMANE SELECT
NM_003319.4:c.59537_59539delAAG
NM_133378.4:c.79028_79030del
NM_133378.4:c.79028_79030delAAG

Protein change:

E19846del

Links:

dbSNP: rs727504797

NCBI 1000 Genomes Browser:

rs727504797

Molecular consequence:

NM_001256850.1:c.81806AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001267550.2:c.86729AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_003319.4:c.59534AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_133378.4:c.79025AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_133432.3:c.59909AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_133437.4:c.60110AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000736942	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Aug 4, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000736942

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Aug 4, 2022)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM, Mook ORF, Alders M, Bikker H, Lekanne Dit Deprez RH, Christiaans I.

Neth Heart J. 2019 Jun;27(6):304-309. doi: 10.1007/s12471-019-1250-5.

PubMed [citation]

PMID:: 30847666
PMCID:: PMC6533346

Details of each submission

From Ambry Genetics, SCV000736942.4

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

Description

The c.59537_59539delAAG variant (also known as p.E19846del) is located in coding exon 153 of the TTN gene. This variant results from an in-frame AAG deletion at nucleotide positions 59537 to 59539. This results in the in-frame deletion of a glutamic acid residue at codon 19846. This variant, designated as p.E26343del, was detected in a cardiomyopathy genetic testing cohort; however, clinical details were limited, and additional cardiac variants were detected in some cases (van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Mar 16, 2024

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