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NM_001267550.2(TTN):c.68329+2_68329+3insTT AND Familial restrictive cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 3, 2019
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:
RCV000853166.1

Allele description [Variation Report for NM_001267550.2(TTN):c.68329+2_68329+3insTT]

NM_001267550.2(TTN):c.68329+2_68329+3insTT

Genes:
LOC126806423:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179443309-179444508 [Gene]
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.68329+2_68329+3insTT
HGVS:
  • NC_000002.12:g.178578608_178578609insAA
  • NC_000002.12:g.178578609_178578610insAA
  • NG_011618.3:g.257194_257195insTT
  • NG_051363.1:g.60783_60784insAA
  • NM_001256850.1:c.63406+2_63406+3insTT
  • NM_001267550.2:c.68329+2_68329+3insTTMANE SELECT
  • NM_003319.4:c.41134+2_41134+3insTT
  • NM_133378.4:c.60625+2_60625+3insTT
  • NM_133432.3:c.41509+2_41509+3insTT
  • NM_133437.4:c.41710+2_41710+3insTT
  • LRG_391t1:c.68329+2_68329+3insTT
  • LRG_391:g.257194_257195insTT
  • NC_000002.11:g.179443335_179443336insAA
  • NC_000002.11:g.179443336_179443337insAA
  • NM_001267550.1:c.68329+2_68329+3insTT
Links:
dbSNP: rs536078303
NCBI 1000 Genomes Browser:
rs536078303
Molecular consequence:
  • NM_001256850.1:c.63406+2_63406+3insTT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001267550.2:c.68329+2_68329+3insTT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_003319.4:c.41134+2_41134+3insTT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_133378.4:c.60625+2_60625+3insTT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_133432.3:c.41509+2_41509+3insTT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_133437.4:c.41710+2_41710+3insTT - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Familial restrictive cardiomyopathy (RCM)
Identifiers:
MONDO: MONDO:0016340; MedGen: C0340429; OMIM: PS115210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000995880Klaassen Lab, Charite University Medicine Berlin
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 3, 2019) 		germlineresearch

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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

RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.

Al-Wakeel-Marquard N, Degener F, Herbst C, Kühnisch J, Dartsch J, Schmitt B, Kuehne T, Messroghli D, Berger F, Klaassen S.

J Am Heart Assoc. 2019 Aug 6;8(15):e012531. doi: 10.1161/JAHA.119.012531. Epub 2019 Jul 23.

PubMed [citation]
PMID:
31333075
PMCID:
PMC6761660
See all PubMed Citations (3)

Details of each submission

From Klaassen Lab, Charite University Medicine Berlin, SCV000995880.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024