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NM_001267550.2(TTN):c.30683-2_30683-1insT AND TTN-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 16, 2017
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:
RCV004527795.1

Allele description [Variation Report for NM_001267550.2(TTN):c.30683-2_30683-1insT]

NM_001267550.2(TTN):c.30683-2_30683-1insT

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.30683-2_30683-1insT
HGVS:
  • NC_000002.12:g.178698915_178698916insA
  • NG_011618.3:g.136887_136888insT
  • NM_001256850.1:c.29732-2_29732-1insT
  • NM_001267550.2:c.30683-2_30683-1insTMANE SELECT
  • NM_003319.4:c.13282+39166_13282+39167insT
  • NM_133378.4:c.26951-2_26951-1insT
  • NM_133432.3:c.13657+39166_13657+39167insT
  • NM_133437.4:c.13858+39166_13858+39167insT
  • LRG_391:g.136887_136888insT
  • NC_000002.11:g.179563642_179563643insA
Links:
dbSNP: rs1560474019
NCBI 1000 Genomes Browser:
rs1560474019
Molecular consequence:
  • NM_003319.4:c.13282+39166_13282+39167insT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+39166_13657+39167insT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+39166_13858+39167insT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.29732-2_29732-1insT - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001267550.2:c.30683-2_30683-1insT - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
TTN-related disorder
Synonyms:
TTN-related condition; TTN-Related Disorders; TTN-related disease
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000915323Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)		Uncertain significance
(May 16, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000915323.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The TTN c.26951-2_26951-1insT variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of splice acceptor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for TTN-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Sep 8, 2024