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NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Oct 1, 2021)
Last evaluated:
May 20, 2021
Accession:
VCV000179078.13
Variation ID:
179078
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr)

Allele ID
172946
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178530494 (GRCh38) GRCh38 UCSC
2: 179395221 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001256850.1:c.101198T>A NP_001243779.1:p.Phe33733Tyr missense
NM_133378.4:c.98417T>A NP_596869.4:p.Phe32806Tyr missense
LRG_391:g.305309T>A
... more HGVS
Protein change
F32806Y, F35374Y, F33733Y, F26434Y, F26501Y, F26309Y
Other names
p.F33733Y:TTT>TAT
Canonical SPDI
NC_000002.12:178530493:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00010
Exome Aggregation Consortium (ExAC) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Links
ClinGen: CA183679
dbSNP: rs727504609
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 26, 2013 RCV000155862.5
Likely benign 1 criteria provided, single submitter Nov 15, 2020 RCV001085039.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations May 20, 2021 RCV000724768.6
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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 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7638 17883
TTN-AS1 - - - GRCh38 - 10017

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 20, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000237957.6
Submitted: (Oct 01, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 29263846)
Uncertain significance
(Apr 22, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000229371.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jun 26, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000205573.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The Phe32806Tyr variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid … (more)
Likely benign
(Nov 15, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000764698.4
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jun 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001152566.7
Submitted: (Jul 04, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTN - - - -

Text-mined citations for rs727504609...

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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 07, 2021