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NM_001267550.2(TTN):c.11662G>T (p.Gly3888Ter) AND Dilated cardiomyopathy 1G

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 24, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004579666.1

Allele description [Variation Report for NM_001267550.2(TTN):c.11662G>T (p.Gly3888Ter)]

NM_001267550.2(TTN):c.11662G>T (p.Gly3888Ter)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.11662G>T (p.Gly3888Ter)
HGVS:
  • NC_000002.12:g.178741571C>A
  • NG_011618.3:g.94232G>T
  • NM_001256850.1:c.10711G>T
  • NM_001267550.2:c.11662G>TMANE SELECT
  • NM_003319.4:c.10573G>T
  • NM_133378.4:c.10361-3211G>T
  • NM_133432.3:c.10948G>T
  • NM_133437.4:c.11149G>T
  • NP_001243779.1:p.Gly3571Ter
  • NP_001254479.1:p.Gly3888Ter
  • NP_001254479.2:p.Gly3888Ter
  • NP_003310.4:p.Gly3525Ter
  • NP_597676.3:p.Gly3650Ter
  • NP_597681.4:p.Gly3717Ter
  • LRG_391t1:c.11662G>T
  • LRG_391:g.94232G>T
  • LRG_391p1:p.Gly3888Ter
  • NC_000002.11:g.179606298C>A
  • NM_001267550.1:c.11662G>T
Protein change:
G3525*
Molecular consequence:
  • NM_133378.4:c.10361-3211G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.10711G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001267550.2:c.11662G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003319.4:c.10573G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133432.3:c.10948G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133437.4:c.11149G>T - 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
SCV005061757Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 24, 2024) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Romaniangermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara, SCV005061757.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Romaniannot providednot providednot providedresearch PubMed (1)

Description

The TTN variant is not present in the healthy population databases (gnomAD v4.1.0 exomes and genomes). This variant leads to frameshift, premature stop codon occurrence, and loss of function (LOF). TTN LOF variants are reported in dilated cardiomyopathy. The variant is expressed by the main adult cardiac TTN transcripts (N2BA and N2B) in a symmetrical constitutive exon in the band I domain. Therefore, the variant was classified as likely pathogenic, according to ACMG 2015 guidelines.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2024