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NM_001267550.2(TTN):c.24195C>T (p.Ser8065=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
11 (Most recent: Oct 15, 2021)
Last evaluated:
Jan 1, 2021
Accession:
VCV000046727.13
Variation ID:
46727
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.24195C>T (p.Ser8065=)

Allele ID
55892
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178719195 (GRCh38) GRCh38 UCSC
2: 179583922 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.116608C>T
NC_000002.11:g.179583922G>A
NM_001256850.1:c.23244C>T NP_001243779.1:p.Ser7748= synonymous
... more HGVS
Protein change
-
Other names
p.S7748S:TCC>TCT
Canonical SPDI
NC_000002.12:178719194:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00123
Exome Aggregation Consortium (ExAC) 0.00036
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00158
The Genome Aggregation Database (gnomAD), exomes 0.00029
The Genome Aggregation Database (gnomAD) 0.00105
Trans-Omics for Precision Medicine (TOPMed) 0.00167
The Genome Aggregation Database (gnomAD) 0.00130
1000 Genomes Project 0.00200
Links
ClinGen: CA282872
dbSNP: rs182425565
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 6 criteria provided, multiple submitters, no conflicts Jun 13, 2020 RCV000039997.8
Benign 1 criteria provided, single submitter Dec 6, 2020 RCV000466356.6
Benign 1 criteria provided, single submitter Jun 2, 2017 RCV000769057.1
Likely benign 3 criteria provided, single submitter Jan 1, 2021 RCV001311553.3
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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
7708 17954

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 02, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000900430.1
Submitted: (Apr 30, 2018)
Evidence details
Likely benign
(Jun 13, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001372427.1
Submitted: (Jul 09, 2020)
Evidence details
Benign
(Mar 27, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000169631.11
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)
Likely benign
(Sep 11, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000203735.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000555441.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Apr 24, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000063688.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ser6821Ser in exon 80 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue … (more)
Likely benign
(Jan 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001501766.3
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001978199.1
Submitted: (Oct 15, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001917639.1
Submitted: (Sep 23, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001957799.1
Submitted: (Sep 30, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001971366.1
Submitted: (Sep 21, 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 rs182425565...

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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 Dec 04, 2021