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NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val)

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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: Apr 12, 2019)
Last evaluated:
Apr 27, 2018
Accession:
VCV000229566.2
Variation ID:
229566
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val)

Allele ID
228559
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178533101 (GRCh38) GRCh38 UCSC
2: 179397828 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179397828T>A
NC_000002.12:g.178533101T>A
NM_001267550.2:c.103514A>T MANE Select NP_001254479.2:p.Glu34505Val missense
... more HGVS
Protein change
E31937V, E34505V, E25440V, E25565V, E25632V, E32864V
Other names
-
Canonical SPDI
NC_000002.12:178533100:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA1985592
dbSNP: rs761105256
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 Jul 30, 2015 RCV000221822.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Apr 27, 2018 RCV000725519.2
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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
7296 17194
TTN-AS1 - - - GRCh38 - 9677

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 06, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000337469.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jul 30, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000272828.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Glu31937Val variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/66738 European chromosomes by the Exome … (more)
Likely benign
(Apr 27, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000984625.1
Submitted: (Apr 12, 2019)
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)

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 rs761105256...

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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