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NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
May 23, 2019
Accession:
VCV000263764.7
Variation ID:
263764
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)

Allele ID
258019
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178554094 (GRCh38) GRCh38 UCSC
2: 179418821 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179418821G>A
NC_000002.12:g.178554094G>A
NM_001267550.2:c.89017C>T MANE Select NP_001254479.2:p.Arg29673Ter nonsense
... more HGVS
Protein change
R27105*, R29673*, R28032*, R20608*, R20733*, R20800*
Other names
-
Canonical SPDI
NC_000002.12:178554093:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs886038916
ClinGen: CA10587456
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 11, 2013 RCV000243308.1
Pathogenic 1 criteria provided, single submitter Feb 6, 2017 RCV000434533.1
Likely pathogenic 1 criteria provided, single submitter May 23, 2019 RCV000795050.2
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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
7416 17422
TTN-AS1 - - - GRCh38 - 9782

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 06, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000536659.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R28032X pathogenic variant in the TTN gene has not been reported as a pathogenic or benign to our knowledge. R28032X is predicted to cause … (more)
Likely pathogenic
(Nov 11, 2013)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000319101.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.R27105X variant (also known as c.81313C>T) is located in coding exon 281 of the TTNgene. This alteration results from a C to T substitution … (more)
Likely pathogenic
(May 23, 2019)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000934491.3
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.Arg29673*). 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

Text-mined citations for rs886038916...

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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 May 10, 2021