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NM_001267550.2(TTN):c.28849G>A (p.Glu9617Lys)

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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: Sep 23, 2021)
Last evaluated:
May 7, 2019
Accession:
VCV000229411.11
Variation ID:
229411
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.28849G>A (p.Glu9617Lys)

Allele ID
228800
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178707718 (GRCh38) GRCh38 UCSC
2: 179572445 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.128085G>A
NM_001256850.1:c.27898G>A NP_001243779.1:p.Glu9300Lys missense
NM_133378.4:c.25117G>A NP_596869.4:p.Glu8373Lys missense
... more HGVS
Protein change
E8373K, E9617K, E9300K
Other names
-
Canonical SPDI
NC_000002.12:178707717:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD) 0.00005
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD) 0.00006
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
ClinGen: CA1999505
dbSNP: rs144025230
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 27, 2015 RCV000214281.1
Uncertain significance 1 criteria provided, single submitter Sep 19, 2017 RCV000769899.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 7, 2019 RCV000840343.4
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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
7638 17883

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 19, 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: SCV000901325.1
Submitted: (Apr 30, 2018)
Evidence details
Uncertain significance
(May 27, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000272614.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Glu8373Lys variant in TTN has not been previously reported in individuals with cardiomyopathy but has been indentified in 5/66676 European chromosomes by the Exome … (more)
Likely benign
(May 07, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000982268.2
Submitted: (Sep 23, 2021)
Evidence details
Uncertain significance
(Nov 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001153012.7
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 rs144025230...

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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