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NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jul 20, 2021)
Last evaluated:
Feb 24, 2021
Accession:
VCV000229502.6
Variation ID:
229502
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=)

Allele ID
228661
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178577603 (GRCh38) GRCh38 UCSC
2: 179442330 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179442330G>A
NC_000002.12:g.178577603G>A
NM_001267550.2:c.68823C>T MANE Select NP_001254479.2:p.Tyr22941= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:178577602:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00014
The Genome Aggregation Database (gnomAD) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00025
The Genome Aggregation Database (gnomAD), exomes 0.00005
Links
ClinGen: CA1991043
dbSNP: rs200717463
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 Jan 29, 2015 RCV000218257.3
Likely benign 1 criteria provided, single submitter Nov 16, 2020 RCV000473945.4
Likely benign 1 criteria provided, single submitter Feb 24, 2021 RCV001537831.1
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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
7377 17355
TTN-AS1 - - - GRCh38 - 9755

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 29, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000272738.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Variant classified as Uncertain Significance - Favor Benign. The p.Tyr20373Tyr v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but … (more)
Likely benign
(Nov 16, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000555222.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Feb 24, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000730404.2
Submitted: (Jul 20, 2021)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs200717463...

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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 Aug 17, 2021