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NM_001267550.2(TTN):c.60099dup (p.Glu20034fs) AND Dilated cardiomyopathy 1G

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 6, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV004764956.1

Allele description [Variation Report for NM_001267550.2(TTN):c.60099dup (p.Glu20034fs)]

NM_001267550.2(TTN):c.60099dup (p.Glu20034fs)

Genes:
LOC126806424:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179456337-179457536 [Gene]
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.60099dup (p.Glu20034fs)
HGVS:
  • NC_000002.12:g.178591720dup
  • NG_011618.3:g.244083dup
  • NG_051363.1:g.73894dup
  • NM_001256850.1:c.55176dup
  • NM_001267550.2:c.60099dupMANE SELECT
  • NM_003319.4:c.32904dup
  • NM_133378.4:c.52395dup
  • NM_133432.3:c.33279dup
  • NM_133437.4:c.33480dup
  • NP_001243779.1:p.Glu18393fs
  • NP_001254479.2:p.Glu20034fs
  • NP_003310.4:p.Glu10969fs
  • NP_596869.4:p.Glu17466fs
  • NP_597676.3:p.Glu11094fs
  • NP_597681.4:p.Glu11161fs
  • LRG_391:g.244083dup
  • NC_000002.11:g.179456447dup
  • NM_001267550.2:c.60099dup
Protein change:
E10969fs
Links:
dbSNP: rs2050247265
NCBI 1000 Genomes Browser:
rs2050247265
Molecular consequence:
  • NM_001256850.1:c.55176dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001267550.2:c.60099dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003319.4:c.32904dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133378.4:c.52395dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133432.3:c.33279dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133437.4:c.33480dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Dilated cardiomyopathy 1G (CMD1G)
Identifiers:
MONDO: MONDO:0011400; MedGen: C1858763; Orphanet: 154; OMIM: 604145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005375205Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere
no assertion criteria provided
Likely pathogenic
(Jan 6, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere, SCV005375205.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024