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NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 25, 2021)
Last evaluated:
Jun 24, 2021
Accession:
VCV000385539.2
Variation ID:
385539
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly)

Allele ID
366144
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178740901 (GRCh38) GRCh38 UCSC
2: 179605628 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.94902C>G
NC_000002.11:g.179605628G>C
NC_000002.12:g.178740901G>C
... more HGVS
Protein change
A3794G, A4111G, A3748G, A3940G, A3873G
Other names
-
Canonical SPDI
NC_000002.12:178740900:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (C)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00025
The Genome Aggregation Database (gnomAD) 0.00016
1000 Genomes Project 0.00060
Links
ClinGen: CA2002731
dbSNP: rs140289517
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 Jun 27, 2017 RCV000528151.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 24, 2021 RCV000730353.2
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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
Likely benign
(Jun 24, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000526835.4
Submitted: (Sep 25, 2021)
Evidence details
Uncertain significance
(Jun 27, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000642657.1
Submitted: (Oct 05, 2017)
Evidence details
Uncertain significance
(Nov 15, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000858082.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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 rs140289517...

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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 Oct 08, 2021