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NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 23, 2021)
Last evaluated:
Sep 24, 2020
Accession:
VCV000290698.5
Variation ID:
290698
Description:
5bp deletion
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NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)

Allele ID
274935
Variant type
Deletion
Variant length
5 bp
Cytogenetic location
2q31.2
Genomic location
2: 178548226-178548230 (GRCh38) GRCh38 UCSC
2: 179412953-179412957 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001267550.2:c.93396_93400delAGCTT MANE Select frameshift
LRG_391:g.287573_287577del
NC_000002.11:g.179412956_179412960del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:178548225:AAGCTAAG:AAG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10606880
dbSNP: rs886044536
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 3, 2019 RCV000520427.2
Likely pathogenic 1 criteria provided, single submitter Nov 8, 2016 RCV000462155.1
Likely pathogenic 1 criteria provided, single submitter Mar 10, 2020 RCV001175501.1
Likely pathogenic 1 criteria provided, single submitter Sep 24, 2020 RCV001377770.1
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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 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7638 17883
TTN-AS1 - - - GRCh38 - 10017

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 08, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000345305.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Oct 03, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000619669.2
Submitted: (Sep 23, 2021)
Evidence details
Comment:
Nonsense variant located in the A-band region of TTN predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function … (more)
Likely pathogenic
(Nov 08, 2016)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Allele origin: germline
Invitae
Accession: SCV000542838.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change deletes 5 nucleotides from exon 339 of the TTN mRNA (c.93396_93400delAGCTT), causing a frameshift at codon 31134. This creates a premature translational … (more)
Likely pathogenic
(Mar 10, 2020)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001339102.1
Submitted: (Apr 29, 2020)
Evidence details
Comment:
Variant summary: TTN c.85692_85696delAGCTT (p.Trp28566X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Likely pathogenic
(Sep 24, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV001575191.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change results in a premature translational stop signal in the TTN gene (p.Trp31134*). 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
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTN - - - -

Text-mined citations for rs886044536...

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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 Sep 24, 2021