NM_001267550.2(TTN):c.52694_52695del (p.His17565fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 7, 2023
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:: RCV004763602.1

Allele description [Variation Report for NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)]

NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)

Genes:

LOC126806425:BRD4-independent group 4 enhancer GRCh37_chr2:179471933-179473132 [Gene]
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.52694_52695del (p.His17565fs)

HGVS:

NC_000002.12:g.178608188_178608189del
NG_011618.3:g.227614_227615del
NG_051363.1:g.90362_90363del
NG_082745.1:g.1083_1084del
NM_001256850.1:c.47771_47772del
NM_001267550.2:c.52694_52695delMANE SELECT
NM_003319.4:c.25499_25500del
NM_133378.4:c.44990_44991del
NM_133432.3:c.25874_25875del
NM_133437.4:c.26075_26076del
NP_001243779.1:p.His15924fs
NP_001254479.1:p.His17565Argfs
NP_001254479.2:p.His17565fs
NP_003310.4:p.His8500fs
NP_596869.4:p.His14997fs
NP_597676.3:p.His8625fs
NP_597681.4:p.His8692fs
LRG_391t1:c.52694_52695del
LRG_391:g.227614_227615del
LRG_391p1:p.His17565Argfs
NC_000002.11:g.179472915_179472916del
NM_001267550.1:c.52694_52695del
NM_001267550.1:c.52694_52695delAT
NR_038271.1:n.704_705del

Protein change:

H14997fs

Molecular consequence:

NM_001256850.1:c.47771_47772del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001267550.2:c.52694_52695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003319.4:c.25499_25500del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133378.4:c.44990_44991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133432.3:c.25874_25875del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133437.4:c.26075_26076del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_038271.1:n.704_705del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005372182	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Aug 7, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005372182

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Aug 7, 2023)

germline

clinical testing

Citation Link

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 GeneDx, SCV005372182.1

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Located in the A-band region of TTN in which the majority of loss of function variants have been associated with autosomal dominant titinopathies (Herman et al., 2012); Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22335739)

#	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: Jan 13, 2025

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