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NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His)

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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 28, 2021)
Last evaluated:
May 26, 2021
Accession:
VCV000404795.4
Variation ID:
404795
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His)

Allele ID
391811
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178563448 (GRCh38) GRCh38 UCSC
2: 179428175 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.272355T>C
NC_000002.11:g.179428175A>G
NC_000002.12:g.178563448A>G
... more HGVS
Protein change
Y27562H, Y25921H, Y18497H, Y18689H, Y24994H, Y18622H
Other names
-
Canonical SPDI
NC_000002.12:178563447:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00016
The Genome Aggregation Database (gnomAD) 0.00038
Trans-Omics for Precision Medicine (TOPMed) 0.00045
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00006
Exome Aggregation Consortium (ExAC) 0.00008
The Genome Aggregation Database (gnomAD) 0.00034
Trans-Omics for Precision Medicine (TOPMed) 0.00037
Links
ClinGen: CA1989029
dbSNP: rs376616067
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 25, 2016 RCV000473870.1
Uncertain significance 1 criteria provided, single submitter Nov 15, 2018 RCV000617756.1
Likely benign 1 criteria provided, single submitter May 26, 2021 RCV001712415.1
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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
7705 17950
TTN-AS1 - - - GRCh38 - 10017

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 25, 2016)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000542533.2
Submitted: (Mar 14, 2017)
Evidence details
Uncertain significance
(Nov 15, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736493.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.Y18497H variant (also known as c.55489T>C), located in coding exon 153 of the TTN gene, results from a T to C substitution at nucleotide … (more)
Likely benign
(May 26, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000730419.2
Submitted: (Sep 28, 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 rs376616067...

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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 Nov 27, 2021