Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Nov 30, 2020)
Last evaluated:
Jun 17, 2020
Accession:
VCV000192091.3
Variation ID:
192091
Description:
single nucleotide variant
Help

NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)

Allele ID
189761
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178782896 (GRCh38) GRCh38 UCSC
2: 179647623 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179647623C>T
NC_000002.12:g.178782896C>T
NM_001267550.2:c.3010G>A MANE Select NP_001254479.2:p.Glu1004Lys missense
... more HGVS
Protein change
E1004K, E958K
Other names
-
Canonical SPDI
NC_000002.12:178782895:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00012
The Genome Aggregation Database (gnomAD) 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00009
Links
ClinGen: CA238309
dbSNP: rs200902055
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Jun 15, 2018 RCV000172484.1
Uncertain significance 1 criteria provided, single submitter Jan 4, 2018 RCV000477223.2
Likely benign 1 criteria provided, single submitter Feb 21, 2017 RCV000601032.1
Likely benign 1 criteria provided, single submitter Jun 17, 2020 RCV000622026.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 24, 2013)
criteria provided, single submitter
Method: research
Not provided
Allele origin: unknown
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
Study: ClinSeq
Accession: SCV000051236.1
Submitted: (Mar 10, 2015)
Comments (2):
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for … (more)
Medical sequencing
Evidence details
Likely benign
(Feb 21, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000714987.1
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
(Jan 04, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000542568.3
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Sep 15, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000844670.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Jun 17, 2020)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000735986.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Subpopulation frequency in support of benign classification
Uncertain significance
(Jun 15, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000855033.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

Functional evidence

Help
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

Help
Title Author Journal Year Link
Interpreting secondary cardiac disease variants in an exome cohort. Ng D Circulation. Cardiovascular genetics 2013 PMID: 23861362
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTN - - - -

Text-mined citations for rs200902055...

Help
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