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NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: May 27, 2021)
Last evaluated:
Mar 30, 2021
Accession:
VCV000047828.4
Variation ID:
47828
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr)

Allele ID
56992
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178740580 (GRCh38) GRCh38 UCSC
2: 179605307 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179605307A>G
NC_000002.12:g.178740580A>G
NM_001267550.2:c.12653T>C MANE Select NP_001254479.2:p.Ile4218Thr missense
... more HGVS
Protein change
I4218T, I3980T, I3901T, I4047T, I3855T
Other names
p.I3901T:ATA>ACA
Canonical SPDI
NC_000002.12:178740579:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00007
The Genome Aggregation Database (gnomAD) 0.00013
Links
ClinGen: CA141993
dbSNP: rs374631591
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 23, 2017 RCV000725423.1
Uncertain significance 1 criteria provided, single submitter Aug 4, 2017 RCV000770111.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Mar 30, 2021 RCV000041097.6
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 23, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000336835.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Aug 04, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000901537.1
Submitted: (Apr 30, 2018)
Evidence details
Likely benign
(Nov 16, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000238178.3
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Mar 30, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064788.7
Submitted: (May 27, 2021)
Evidence details
Comment:
Variant classified as Uncertain Significance - Favor Benign. The p.Ile3980Thr variant in TTN has not been previously reported in individuals with cardiomyopathy but has been … (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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTN - - - -

Text-mined citations for rs374631591...

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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 Jul 07, 2021