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NM_001267550.2(TTN):c.64972+10del AND Cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 26, 2016
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:
RCV000768962.2

Allele description [Variation Report for NM_001267550.2(TTN):c.64972+10del]

NM_001267550.2(TTN):c.64972+10del

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.64972+10del
HGVS:
  • NC_000002.12:g.178584663del
  • NG_011618.3:g.251144del
  • NG_051363.1:g.66837del
  • NM_001256850.1:c.60049+10del
  • NM_001267550.2:c.64972+10delMANE SELECT
  • NM_003319.4:c.37777+10del
  • NM_133378.4:c.57268+10del
  • NM_133432.3:c.38152+10del
  • NM_133437.4:c.38353+10del
  • LRG_391:g.251144del
  • NC_000002.11:g.179449386del
  • NC_000002.11:g.179449390del
  • NR_038272.1:n.2858del
Links:
dbSNP: rs770999001
NCBI 1000 Genomes Browser:
rs770999001
Molecular consequence:
  • NM_001267550.2:c.64972+10del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.37777+10del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.57268+10del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.38152+10del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.38353+10del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_038272.1:n.2858del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000900335CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 26, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000900335.1

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

Last Updated: Sep 29, 2024