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NM_001267550.2(TTN):c.77100dup (p.Pro25701fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 29, 2018)
Last evaluated:
Feb 27, 2018
Accession:
VCV000202470.1
Variation ID:
202470
Description:
1bp duplication
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NM_001267550.2(TTN):c.77100dup (p.Pro25701fs)

Allele ID
198997
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178569032 (GRCh38) GRCh38 UCSC
2: 179433759 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179433760dup
NC_000002.12:g.178569033dup
NM_001256850.1:c.72177dup NP_001243779.1:p.Pro24060fs frameshift
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA309433
dbSNP: rs794729343
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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 Sep 18, 2015 RCV000211514.1
Likely pathogenic 1 criteria provided, single submitter Feb 27, 2018 RCV000698920.1
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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
5654 13112
TTN-AS1 - - - GRCh38 - 7290

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 18, 2015)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Allele origin: germline
Center of Genomic medicine, Geneva,University Hospital of Geneva
Accession: SCV000268508.1
Submitted: (May 03, 2016)
Evidence details
Comment:
Loss of function mutations of TTN gene are known to cause dilated cardiomyopathy. Here we report a patient with dilated non-compaction cardiomyopathy harbouring a loss ... (more)
Likely pathogenic
(Feb 27, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000827611.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change results in a premature translational stop signal in the TTN gene (p.Pro25701Thrfs*9). While this is not anticipated to result in nonsense mediated ... (more)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. Fokstuen S Human genomics 2016 PMID: 27353043
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

Record last updated Oct 27, 2019