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NM_001267550.2(TTN):c.49891_49892insA (p.Ala16631fs) AND Dilated cardiomyopathy 1A

Germline classification:
Likely pathogenic (1 submission)
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:
RCV003149165.1

Allele description [Variation Report for NM_001267550.2(TTN):c.49891_49892insA (p.Ala16631fs)]

NM_001267550.2(TTN):c.49891_49892insA (p.Ala16631fs)

Genes:
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.49891_49892insA (p.Ala16631fs)
HGVS:
  • NC_000002.12:g.178612829_178612830insT
  • NG_011618.3:g.222973_222974insA
  • NG_051363.1:g.95003_95004insT
  • NM_001256850.1:c.44968_44969insA
  • NM_001267550.2:c.49891_49892insAMANE SELECT
  • NM_003319.4:c.22696_22697insA
  • NM_133378.4:c.42187_42188insA
  • NM_133432.3:c.23071_23072insA
  • NM_133437.4:c.23272_23273insA
  • NP_001243779.1:p.Ala14990fs
  • NP_001254479.1:p.Ala16631Aspfs
  • NP_001254479.2:p.Ala16631fs
  • NP_003310.4:p.Ala7566fs
  • NP_596869.4:p.Ala14063fs
  • NP_597676.3:p.Ala7691fs
  • NP_597681.4:p.Ala7758fs
  • LRG_391t1:c.49891_49892insA
  • LRG_391:g.222973_222974insA
  • LRG_391p1:p.Ala16631Aspfs
  • NC_000002.11:g.179477556_179477557insT
  • NM_001256850.1:c.44969delinsA
  • NM_001267550.1:c.49891_49892insA
Protein change:
A14063fs
Molecular consequence:
  • NM_001256850.1:c.44968_44969insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001267550.2:c.49891_49892insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003319.4:c.22696_22697insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133378.4:c.42187_42188insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133432.3:c.23071_23072insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133437.4:c.23272_23273insA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Dilated cardiomyopathy 1A (CMD1A)
Synonyms:
CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Idiopathic dilated cardiomyopathy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007269; MedGen: C1449563; Orphanet: 300751; OMIM: 115200

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003836535Cytogenetics- Mohapatra Lab, Banaras Hindu University
no assertion criteria provided
Likely pathogenicunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

Details of each submission

From Cytogenetics- Mohapatra Lab, Banaras Hindu University, SCV003836535.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 11, 2023