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NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs) AND Early-onset myopathy with fatal cardiomyopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 4, 2021
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:
RCV001533175.3

Allele description

NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs)
HGVS:
  • NC_000002.12:g.178646547dup
  • NG_011618.3:g.189259dup
  • NM_001256850.1:c.35375-517dup
  • NM_001267550.2:c.40238dupMANE SELECT
  • NM_003319.4:c.13283-4230dup
  • NM_133378.4:c.32594-517dup
  • NM_133432.3:c.13658-4230dup
  • NM_133437.4:c.13859-4230dup
  • NP_001254479.2:p.Tyr13414fs
  • LRG_391:g.189259dup
  • NC_000002.11:g.179511274dup
  • NM_001267550.2:c.40238dupAMANE SELECT
Protein change:
Y13414fs
Links:
dbSNP: rs2154244761
NCBI 1000 Genomes Browser:
rs2154244761
Molecular consequence:
  • NM_001267550.2:c.40238dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001256850.1:c.35375-517dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.13283-4230dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.32594-517dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13658-4230dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13859-4230dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Early-onset myopathy with fatal cardiomyopathy (CMYO5)
Synonyms:
CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; Salih Myopathy
Identifiers:
MONDO: MONDO:0012714; MedGen: C2673677; Orphanet: 289377; OMIM: 611705

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001746619Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 4, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Recognition and Impact of Host-derived Molecules on Bacterial Cell-to-cell Signalling Pathways.

Holban AM, Chifiriuc MC, Lazar V.

Med Chem. 2015;11(7):610-7. Review.

PubMed [citation]
PMID:
25741882

Details of each submission

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV001746619.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2024