NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer) AND Tibial muscular dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 31, 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:: RCV003333295.1

Allele description [Variation Report for NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)]

NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)

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.46344del (p.Ile15448_Ile15449insTer)

HGVS:

NC_000002.12:g.178620074del
NG_011618.3:g.215730del
NG_051363.1:g.102248del
NM_001256850.1:c.41421del
NM_001267550.2:c.46344delMANE SELECT
NM_003319.4:c.19149del
NM_133378.4:c.38640del
NM_133432.3:c.19524del
NM_133437.4:c.19725del
NP_001243779.1:p.Ile13807_Ile13808insTer
NP_001254479.1:p.Ile15449Terfs
NP_001254479.2:p.Ile15448_Ile15449insTer
NP_003310.4:p.Ile6383_Ile6384insTer
NP_596869.4:p.Ile12880_Ile12881insTer
NP_597676.3:p.Ile6508_Ile6509insTer
NP_597681.4:p.Ile6575_Ile6576insTer
LRG_391t1:c.46343del
LRG_391:g.215730del
LRG_391p1:p.Ile15449Terfs
NC_000002.11:g.179484801del
NM_001267550.1:c.46343delT
NR_038271.1:n.1926del

Molecular consequence:

NM_001256850.1:c.41421del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001267550.2:c.46344del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003319.4:c.19149del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133378.4:c.38640del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133432.3:c.19524del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133437.4:c.19725del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_038271.1:n.1926del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Tibial muscular dystrophy (TMD)
Synonyms:: Distal myopathy Markesbery-Griggs type; UDD Myopathy; Tibial muscular dystrophy, tardive; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010870; MedGen: C1838244; Orphanet: 609; OMIM: 600334

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004040866	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 31, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004040866

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 31, 2023)

unknown

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Baylor Genetics, SCV004040866.1

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

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

Last Updated: Jul 29, 2024

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