U.S. flag

An official website of the United States government

NM_001267550.2(TTN):c.95232del (p.Ile31744fs) 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:
RCV004765220.1

Allele description [Variation Report for NM_001267550.2(TTN):c.95232del (p.Ile31744fs)]

NM_001267550.2(TTN):c.95232del (p.Ile31744fs)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.95232del (p.Ile31744fs)
HGVS:
  • NC_000002.12:g.178546004del
  • NG_011618.3:g.289799del
  • NG_051363.1:g.28178del
  • NM_001256850.1:c.90309del
  • NM_001267550.2:c.95232delMANE SELECT
  • NM_003319.4:c.68037del
  • NM_133378.4:c.87528del
  • NM_133432.3:c.68412del
  • NM_133437.4:c.68613del
  • NP_001243779.1:p.Ile30103fs
  • NP_001254479.1:p.Ile31744Metfs
  • NP_001254479.2:p.Ile31744fs
  • NP_003310.4:p.Ile22679fs
  • NP_596869.4:p.Ile29176fs
  • NP_597676.3:p.Ile22804fs
  • NP_597681.4:p.Ile22871fs
  • LRG_391t1:c.95232del
  • LRG_391:g.289799del
  • LRG_391p1:p.Ile31744Metfs
  • NC_000002.11:g.179410731del
  • NM_001267550.1:c.95232delC
Protein change:
I22679fs
Molecular consequence:
  • NM_001256850.1:c.90309del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001267550.2:c.95232del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003319.4:c.68037del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133378.4:c.87528del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133432.3:c.68412del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133437.4:c.68613del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005375071Cardiogenetics 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, SCV005375071.1

#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