NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 13, 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:: RCV000184256.6

Allele description [Variation Report for NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter)]

NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter)

Genes:

LOC126806422:BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 [Gene]
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.70162C>T (p.Arg23388Ter)

Other names:

p.R21747*:CGA>TGA

HGVS:

NC_000002.12:g.178575970G>A
NG_011618.3:g.259833C>T
NG_051363.1:g.58144G>A
NM_001256850.1:c.65239C>T
NM_001267550.2:c.70162C>TMANE SELECT
NM_003319.4:c.42967C>T
NM_133378.4:c.62458C>T
NM_133432.3:c.43342C>T
NM_133437.4:c.43543C>T
NP_001243779.1:p.Arg21747Ter
NP_001254479.2:p.Arg23388Ter
NP_003310.4:p.Arg14323Ter
NP_596869.4:p.Arg20820Ter
NP_597676.3:p.Arg14448Ter
NP_597681.4:p.Arg14515Ter
LRG_391:g.259833C>T
NC_000002.11:g.179440697G>A
NM_001267550.1:c.70162C>T
NM_003319.4:c.42967C>T
p.Arg20820*

Protein change:

R14323*

Links:

dbSNP: rs781540455

NCBI 1000 Genomes Browser:

rs781540455

Molecular consequence:

NM_001256850.1:c.65239C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001267550.2:c.70162C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003319.4:c.42967C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133378.4:c.62458C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133432.3:c.43342C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133437.4:c.43543C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000236878	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 13, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000236878

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Apr 13, 2022)

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, SCV000236878.14

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

Description

Published in association with left ventricular noncompaction (LVNC) and early-onset atrial fibrillation (Sedaghat-Hamedani et al., 2017; Choi et al., 2018); Nonsense 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 titin, where the majority of truncating pathogenic variants associated with DCM have been reported (Herman et al., 2012); Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29029073, 30535219, 33190517)

#	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: Oct 26, 2024

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