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NM_001267550.2(TTN):c.107889del (p.Lys35963fs) AND Myopathy, myofibrillar, 9, with early respiratory failure

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000844994.3

Allele description [Variation Report for NM_001267550.2(TTN):c.107889del (p.Lys35963fs)]

NM_001267550.2(TTN):c.107889del (p.Lys35963fs)

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.107889del (p.Lys35963fs)
HGVS:
  • NC_000002.12:g.178527101del
  • NG_011618.3:g.308704del
  • NG_051363.1:g.9275del
  • NM_001256850.1:c.102966del
  • NM_001267550.2:c.107889delMANE SELECT
  • NM_003319.4:c.80694del
  • NM_133378.4:c.100185del
  • NM_133432.3:c.81069del
  • NM_133437.4:c.81270del
  • NP_001243779.1:p.Lys34322fs
  • NP_001254479.2:p.Lys35963fs
  • NP_003310.4:p.Lys26898fs
  • NP_596869.4:p.Lys33395fs
  • NP_597676.3:p.Lys27023fs
  • NP_597681.4:p.Lys27090fs
  • LRG_391t1:c.107889del
  • LRG_391:g.308704del
  • NC_000002.11:g.179391826del
  • NC_000002.11:g.179391828del
  • NM_001256850.1:c.102966delA
  • NM_001267550.1:c.107889del
  • NM_001267550.2:c.107889delAMANE SELECT
  • NM_003319.4:c.80694delA
  • NM_133378.4:c.100185del
  • NM_133378.4:c.100185delA
  • p.K34322NfsX9
  • p.Lys35963AsnfsTer9
Nucleotide change:
AJ277892.2:g.293378delA
Protein change:
K26898fs
Links:
dbSNP: rs281864930
NCBI 1000 Genomes Browser:
rs281864930
Molecular consequence:
  • NM_001256850.1:c.102966del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001267550.2:c.107889del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003319.4:c.80694del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133378.4:c.100185del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133432.3:c.81069del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133437.4:c.81270del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986824GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000986824.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as pathogenic and reported on 01/12/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Oct 20, 2024