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NM_001267550.2(TTN):c.3523+1_3523+5delinsCAGGAAC 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:
RCV004765282.1

Allele description [Variation Report for NM_001267550.2(TTN):c.3523+1_3523+5delinsCAGGAAC]

NM_001267550.2(TTN):c.3523+1_3523+5delinsCAGGAAC

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.3523+1_3523+5delinsCAGGAAC
HGVS:
  • NC_000002.12:g.178781116_178781120delinsGTTCCTG
  • NG_011618.3:g.54683_54687delinsCAGGAAC
  • NM_001256850.1:c.3523+1_3523+5delinsCAGGAAC
  • NM_001267550.2:c.3523+1_3523+5delinsCAGGAACMANE SELECT
  • NM_003319.4:c.3385+1_3385+5delinsCAGGAAC
  • NM_133378.4:c.3523+1_3523+5delinsCAGGAAC
  • NM_133379.5:c.3523+1_3523+5delinsCAGGAAC
  • NM_133432.3:c.3385+1_3385+5delinsCAGGAAC
  • NM_133437.4:c.3385+1_3385+5delinsCAGGAAC
  • LRG_391:g.54683_54687delinsCAGGAAC
  • NC_000002.11:g.179645843_179645847delinsGTTCCTG
Molecular consequence:
  • NM_001256850.1:c.3523+1_3523+5delinsCAGGAAC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001267550.2:c.3523+1_3523+5delinsCAGGAAC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_003319.4:c.3385+1_3385+5delinsCAGGAAC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_133378.4:c.3523+1_3523+5delinsCAGGAAC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_133379.5:c.3523+1_3523+5delinsCAGGAAC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_133432.3:c.3385+1_3385+5delinsCAGGAAC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_133437.4:c.3385+1_3385+5delinsCAGGAAC - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV005375176Cardiogenetics 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, SCV005375176.1

#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