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NM_001267550.2(TTN):c.105424G>A (p.Glu35142Lys)

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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 24, 2021)
Last evaluated:
Feb 20, 2020
Accession:
VCV000669807.10
Variation ID:
669807
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.105424G>A (p.Glu35142Lys)

Allele ID
655179
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178531191 (GRCh38) GRCh38 UCSC
2: 179395918 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179395918C>T
NC_000002.12:g.178531191C>T
NG_011618.3:g.304612G>A
... more HGVS
Protein change
E26077K, E26269K, E35142K, E26202K, E32574K, E33501K
Other names
-
Canonical SPDI
NC_000002.12:178531190:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Exome Aggregation Consortium (ExAC) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00005
Links
dbSNP: rs765274398
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 Nov 27, 2017 RCV001170283.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 20, 2020 RCV000828908.4
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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 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7708 17954
TTN-AS1 - - - GRCh38 - -

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 27, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Accession: SCV001332847.1
Submitted: (Mar 03, 2020)
Evidence details
Likely benign
(Feb 20, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000970613.1
Submitted: (Sep 24, 2021)
Evidence details
Uncertain significance
(Mar 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001152573.7
Submitted: (Jul 04, 2021)
Evidence details

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

Text-mined citations for rs765274398...

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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 Nov 27, 2021