NM_001267550.2(TTN):c.54193C>T (p.Arg18065Cys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 21, 2014
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:: RCV000184623.3

Allele description [Variation Report for NM_001267550.2(TTN):c.54193C>T (p.Arg18065Cys)]

NM_001267550.2(TTN):c.54193C>T (p.Arg18065Cys)

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.54193C>T (p.Arg18065Cys)

Other names:

p.R16424C:CGC>TGC

HGVS:

NC_000002.12:g.178604896G>A
NG_011618.3:g.230907C>T
NG_051363.1:g.87070G>A
NM_001256850.1:c.49270C>T
NM_001267550.2:c.54193C>TMANE SELECT
NM_003319.4:c.26998C>T
NM_133378.4:c.46489C>T
NM_133432.3:c.27373C>T
NM_133437.4:c.27574C>T
NP_001243779.1:p.Arg16424Cys
NP_001254479.2:p.Arg18065Cys
NP_003310.4:p.Arg9000Cys
NP_596869.4:p.Arg15497Cys
NP_597676.3:p.Arg9125Cys
NP_597681.4:p.Arg9192Cys
LRG_391:g.230907C>T
NC_000002.11:g.179469623G>A
NM_001267550.2:c.54193C>T
NR_038272.1:n.4083G>A

Protein change:

R15497C

Links:

dbSNP: rs369438623

NCBI 1000 Genomes Browser:

rs369438623

Molecular consequence:

NM_001256850.1:c.49270C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.54193C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.26998C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.46489C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.27373C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.27574C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_038272.1:n.4083G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000237297	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Apr 21, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000237297

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Apr 21, 2014)

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, SCV000237297.6

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

Description

Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM-CRDM panel(s).

#	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: Jul 29, 2024

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