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NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 11, 2020
Accession:
VCV000202537.6
Variation ID:
202537
Description:
5bp duplication
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NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs)

Allele ID
199332
Variant type
Duplication
Variant length
5 bp
Cytogenetic location
2q31.2
Genomic location
2: 178621503-178621504 (GRCh38) GRCh38 UCSC
2: 179486230-179486231 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.214295_214299dup
NC_000002.11:g.179486231_179486235dup
NC_000002.12:g.178621504_178621508dup
... more HGVS
Protein change
R12540fs, R13467fs, R6043fs, R15108fs, R6168fs, R6235fs
Other names
-
Canonical SPDI
NC_000002.12:178621503:GAGCT:GAGCTGAGCT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA309541
dbSNP: rs794729390
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 15, 2018 RCV000184407.2
Likely pathogenic 1 criteria provided, single submitter Feb 11, 2020 RCV000620246.2
Uncertain significance 1 criteria provided, single submitter Jan 24, 2020 RCV001241598.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TTN - - GRCh38
GRCh37
7377 17355

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 15, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000237032.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.40393_40397dupAGCTC variant has not been published in any peer-reviewed publications to our knowledge. This variant causes a shift in reading frame starting at codon … (more)
Likely pathogenic
(Feb 11, 2020)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000735922.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.18121_18125dupAGCTC variant, located in coding exon 72 of the TTN gene, results from a duplication of AGCTC at nucleotide position 18121, causing a translational … (more)
Uncertain significance
(Jan 24, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV001414626.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change results in a premature translational stop signal in the TTN gene (p.Arg15108Alafs*71). While this is not anticipated to result in nonsense mediated … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Prevalence of Titin Truncating Variants in General Population. Akinrinade O PloS one 2015 PMID: 26701604
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Roberts AM Science translational medicine 2015 PMID: 25589632
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Ceyhan-Birsoy O Neurology 2013 PMID: 23975875
Truncations of titin causing dilated cardiomyopathy. Herman DS The New England journal of medicine 2012 PMID: 22335739

Text-mined citations for rs794729390...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 08, 2021