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NM_001267550.2(TTN):c.100766-10dup AND Early-onset myopathy with fatal cardiomyopathy

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 10, 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:
RCV001842794.3

Allele description [Variation Report for NM_001267550.2(TTN):c.100766-10dup]

NM_001267550.2(TTN):c.100766-10dup

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.100766-10dup
HGVS:
  • NC_000002.12:g.178535873dup
  • NG_011618.3:g.299944dup
  • NG_051363.1:g.18047dup
  • NM_001256850.1:c.95843-10dup
  • NM_001267550.2:c.100766-10dupMANE SELECT
  • NM_003319.4:c.73571-10dup
  • NM_133378.4:c.93062-10dup
  • NM_133432.3:c.73946-10dup
  • NM_133437.4:c.74147-10dup
  • LRG_391:g.299944dup
  • NC_000002.11:g.179400600dup
  • NC_000002.12:g.178535858_178535859insA
  • NM_001267550.2:c.100766-10dupTMANE SELECT
Links:
dbSNP: rs749872538
NCBI 1000 Genomes Browser:
rs749872538
Molecular consequence:
  • NM_001256850.1:c.95843-10dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.100766-10dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.73571-10dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.93062-10dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.73946-10dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.74147-10dup - 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
SCV002100930Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Sep 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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 Genome-Nilou Lab, SCV002100930.1

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

Last Updated: Aug 4, 2024