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.7711G>A (p.Glu2571Lys)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Nov 30, 2020)
Last evaluated:
Sep 21, 2020
Accession:
VCV000074312.4
Variation ID:
74312
Description:
single nucleotide variant
Help

NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys)

Allele ID
85203
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178773253 (GRCh38) GRCh38 UCSC
2: 179637980 (GRCh37) GRCh37 UCSC
2: 179346225 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179637980C>T
NC_000002.12:g.178773253C>T
NG_011618.3:g.62550G>A
... more HGVS
Protein change
E2571K, E2525K
Other names
p.E2571K:GAA>AAA
Canonical SPDI
NC_000002.12:178773252:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00006
Exome Aggregation Consortium (ExAC) 0.00010
The Genome Aggregation Database (gnomAD) 0.00013
Trans-Omics for Precision Medicine (TOPMed) 0.00014
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
1000 Genomes Project 0.00120
Links
ClinGen: CA311474
dbSNP: rs149660690
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 31, 2013 RCV000185190.3
Uncertain significance 1 criteria provided, single submitter Mar 21, 2017 RCV000535408.1
Likely benign 1 criteria provided, single submitter Sep 21, 2020 RCV000620633.2
Uncertain significance 1 criteria provided, single submitter Aug 23, 2018 RCV000734888.1
Help
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
7705 17950

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 31, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000238034.6
Submitted: (Jul 13, 2017)
Evidence details
Comment:
Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in … (more)
Uncertain significance
(Mar 21, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000643695.1
Submitted: (Oct 05, 2017)
Evidence details
Likely benign
(Sep 21, 2020)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000737053.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Other strong data supporting benign classification
Uncertain significance
(Aug 23, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000863067.1
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTN - - - -

Text-mined citations for rs149660690...

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 Nov 27, 2021