NM_001267550.2(TTN):c.52694_52695del (p.His17565fs) AND Myopathy, myofibrillar, 9, with early respiratory failure

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 12, 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:: RCV003147978.1

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)

Name:: Myopathy, myofibrillar, 9, with early respiratory failure (MFM9)
Synonyms:: EDSTROM MYOPATHY; MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; Hereditary myopathy with early respiratory failure; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011362; MedGen: C1863599; Orphanet: 178464; Orphanet: 34521; OMIM: 603689

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003835531	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 12, 2022)	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

SCV003835531

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 12, 2022)

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, SCV003835531.1

#	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: Jan 13, 2025

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