Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001267550.2(TTN):c.53432G>A (p.Trp17811Ter)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 8, 2019)
Last evaluated:
May 8, 2018
Accession:
VCV000636639.1
Variation ID:
636639
Description:
single nucleotide variant
Help

NM_001267550.2(TTN):c.53432G>A (p.Trp17811Ter)

Allele ID
624218
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178607170 (GRCh38) GRCh38 UCSC
2: 179471897 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179471897C>T
NC_000002.12:g.178607170C>T
NM_001256850.1:c.48509G>A NP_001243779.1:p.Trp16170Ter nonsense
... more HGVS
Protein change
W17811*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 8, 2018 RCV000788530.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 08, 2018)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Blueprint Genetics
Accession: SCV000927679.1
Submitted: (May 08, 2019)
Comment:
Patient analyzed with Dilated Cardiomyopathy (DCM) Panel
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019