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.18659G>C (p.Cys6220Ser)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000046640.6
Variation ID:
46640
Description:
single nucleotide variant
Help

NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)

Allele ID
55805
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178729497 (GRCh38) GRCh38 UCSC
2: 179594224 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.106306G>C
NC_000002.11:g.179594224C>G
NC_000002.12:g.178729497C>G
... more HGVS
Protein change
C6220S, C4976S, C5903S
Other names
p.C4976S:TGT>TCT
Canonical SPDI
NC_000002.12:178729496:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00166
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00191
1000 Genomes Project 0.00200
Trans-Omics for Precision Medicine (TOPMed) 0.00207
The Genome Aggregation Database (gnomAD), exomes 0.00039
Exome Aggregation Consortium (ExAC) 0.00046
Links
ClinGen: CA138828
dbSNP: rs191692293
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 3 criteria provided, multiple submitters, no conflicts Sep 5, 2017 RCV000039910.7
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000464902.6
Uncertain significance 1 criteria provided, single submitter Dec 9, 2019 RCV001284965.1
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
7416 17422

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 05, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000238255.3
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)
Likely benign
(Apr 09, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000203740.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Apr 01, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000063601.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Cys4976Ser in exon 61 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (52/9760) of … (more)
Uncertain significance
(Dec 09, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001471067.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The TTN c.18659G>C; p.Cys6220Ser variant (rs191692293; ClinVar Variation ID: 46640) is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and … (more)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000555671.6
Submitted: (Jan 07, 2021)
Evidence details

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 rs191692293...

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 Sep 18, 2021