NM_001267550.2(TTN):c.97417del (p.Arg32473fs) AND Centronuclear myopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 1, 2024
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:: RCV004587597.2

Allele description [Variation Report for NM_001267550.2(TTN):c.97417del (p.Arg32473fs)]

NM_001267550.2(TTN):c.97417del (p.Arg32473fs)

Genes:

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.97417del (p.Arg32473fs)

HGVS:

NC_000002.12:g.178542340del
NG_011618.3:g.293464del
NG_051363.1:g.24514del
NM_001256850.1:c.92494del
NM_001267550.2:c.97417delMANE SELECT
NM_003319.4:c.70222del
NM_133378.4:c.89713del
NM_133432.3:c.70597del
NM_133437.4:c.70798del
NP_001243779.1:p.Arg30832fs
NP_001254479.1:p.Arg32473Valfs
NP_001254479.2:p.Arg32473fs
NP_003310.4:p.Arg23408fs
NP_596869.4:p.Arg29905fs
NP_597676.3:p.Arg23533fs
NP_597681.4:p.Arg23600fs
LRG_391t1:c.97416del
LRG_391:g.293464del
LRG_391p1:p.Arg32473Valfs
NC_000002.11:g.179407067del
NM_001267550.1:c.97416delC
NM_001267550.2:c.97417del
NM_003319.4:c.70222delC
NR_038272.1:n.2022del

Protein change:

R23408fs

Links:

dbSNP: rs2468887048

Molecular consequence:

NM_001256850.1:c.92494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001267550.2:c.97417del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003319.4:c.70222del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133378.4:c.89713del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133432.3:c.70597del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133437.4:c.70798del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_038272.1:n.2022del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Centronuclear myopathy (CNM)
Synonyms:: Myotubular myopathy; Centronuclear myopathy, congenital
Identifiers:: MONDO: MONDO:0018947; MedGen: C0175709; OMIM: PS160150

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005038524	Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 1, 2024)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005038524

Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 1, 2024)

unknown

research

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	unknown	yes	1	not provided	not provided	not provided	not provided	research

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 Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire, SCV005038524.2

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

Description

PVS1+PM2

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

Last Updated: May 16, 2025

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