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NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 19, 2018)
Last evaluated:
Nov 7, 2017
Accession:
VCV000288762.1
Variation ID:
288762
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe)

Allele ID
272999
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178620850 (GRCh38) GRCh38 UCSC
2: 179485577 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179485577T>A
NC_000002.12:g.178620850T>A
NM_001267550.2:c.45760A>T MANE Select NP_001254479.2:p.Ile15254Phe missense
... more HGVS
Protein change
I12686F, I15254F, I13613F, I6381F, I6314F, I6189F
Other names
-
Canonical SPDI
NC_000002.12:178620849:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00012
Links
ClinGen: CA1995375
dbSNP: rs72677226
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 7, 2017 RCV000351289.3
Uncertain significance 1 criteria provided, single submitter Feb 20, 2017 RCV000555954.1
Uncertain significance 1 criteria provided, single submitter Jul 8, 2016 RCV000726219.1
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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
7416 17422

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 20, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000643204.1
Submitted: (Oct 05, 2017)
Evidence details
Likely benign
(Nov 07, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000730708.1
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
(Jul 08, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000342968.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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 rs72677226...

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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 Apr 08, 2021