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NM_001267550.2(TTN):c.67458T>G (p.Tyr22486Ter) 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:
RCV004765135.1

Allele description [Variation Report for NM_001267550.2(TTN):c.67458T>G (p.Tyr22486Ter)]

NM_001267550.2(TTN):c.67458T>G (p.Tyr22486Ter)

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:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.67458T>G (p.Tyr22486Ter)
HGVS:
  • NC_000002.12:g.178579739A>C
  • NG_011618.3:g.256064T>G
  • NG_051363.1:g.61913A>C
  • NG_082743.1:g.1258A>C
  • NM_001256850.1:c.62535T>G
  • NM_001267550.2:c.67458T>GMANE SELECT
  • NM_003319.4:c.40263T>G
  • NM_133378.4:c.59754T>G
  • NM_133432.3:c.40638T>G
  • NM_133437.4:c.40839T>G
  • NP_001243779.1:p.Tyr20845Ter
  • NP_001254479.1:p.Tyr22486Ter
  • NP_001254479.2:p.Tyr22486Ter
  • NP_003310.4:p.Tyr13421Ter
  • NP_596869.4:p.Tyr19918Ter
  • NP_597676.3:p.Tyr13546Ter
  • NP_597681.4:p.Tyr13613Ter
  • LRG_391t1:c.67458T>G
  • LRG_391:g.256064T>G
  • LRG_391p1:p.Tyr22486Ter
  • NC_000002.11:g.179444466A>C
  • NM_001267550.1:c.67458T>G
Protein change:
Y13421*
Molecular consequence:
  • NM_001256850.1:c.62535T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001267550.2:c.67458T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003319.4:c.40263T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133378.4:c.59754T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133432.3:c.40638T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133437.4:c.40839T>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV005374946Cardiogenetics 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, SCV005374946.1

#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