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NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser)

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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: Mar 21, 2019)
Last evaluated:
Feb 12, 2018
Accession:
VCV000166227.2
Variation ID:
166227
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser)

Allele ID
173257
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178738151 (GRCh38) GRCh38 UCSC
2: 179602878 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179602878C>T
NC_000002.12:g.178738151C>T
NM_001267550.2:c.14302G>A MANE Select NP_001254479.2:p.Gly4768Ser missense
... more HGVS
Protein change
G3524S, G4768S, G4451S, G4530S, G4405S, G4597S
Other names
p.G4451S:GGC>AGC
Canonical SPDI
NC_000002.12:178738150:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00005
The Genome Aggregation Database (gnomAD) 0.00013
Links
ClinGen: CA179001
dbSNP: rs727503652
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 Jul 10, 2017 RCV000560224.1
Uncertain significance 1 criteria provided, single submitter Sep 28, 2015 RCV000725300.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 12, 2018 RCV000152410.6
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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 - - 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
(Jul 10, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000642691.1
Submitted: (Oct 05, 2017)
Evidence details
Likely benign
(Feb 12, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000238195.7
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
(Sep 28, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000335822.3
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Oct 15, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000201435.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The Gly3524Ser variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational analyses (bioche mical amino … (more)

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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTN - - - -

Text-mined citations for rs727503652...

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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 Jul 07, 2021