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NM_001267550.2(TTN):c.11311+1799G>C

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Mar 21, 2019)
Last evaluated:
Oct 16, 2016
Accession:
VCV000047732.2
Variation ID:
47732
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.11311+1799G>C

Allele ID
56896
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178751325 (GRCh38) GRCh38 UCSC
2: 179616052 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.84478G>C
LRG_391t2:c.11075G>C
NC_000002.11:g.179616052C>G
... more HGVS
Protein change
S3692T
Other names
p.S3692T:AGT>ACT
Canonical SPDI
NC_000002.12:178751324:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00107
The Genome Aggregation Database (gnomAD) 0.00029
Trans-Omics for Precision Medicine (TOPMed) 0.00066
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00085
Exome Aggregation Consortium (ExAC) 0.00093
Links
ClinGen: CA141795
dbSNP: rs147314430
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 24, 2013 RCV000172721.4
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Oct 16, 2016 RCV000041001.4
not provided 1 no assertion provided - RCV000709884.1

Clinical features observed in individuals with this variant

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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
7416 17422

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 24, 2013)
criteria provided, single submitter
Method: research
Not provided
Allele origin: unknown
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
Study: ClinSeq
Accession: SCV000051330.1
Submitted: (Mar 10, 2015)
Comments (2):
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for … (more)
Medical sequencing
Evidence details
Uncertain significance
(Jun 08, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000238090.7
Submitted: (Jul 13, 2017)
Evidence details
Comment:
Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in … (more)
Likely benign
(Oct 16, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000702040.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Oct 24, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064692.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Variant classified as Uncertain Significance - Favor Benign. The Ser3692Thr vari ant in TTN has not been reported in the literature nor previously identified by … (more)
not provided
(-)
no assertion provided
Method: phenotyping only
Familial hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Limb-girdle muscular dystrophy, type 2J
Myopathy, early-onset, with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Allele origin: unknown
GenomeConnect, ClinGen
Accession: SCV000840225.1
Submitted: (Mar 13, 2018)
Evidence details
Comment:
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical … (more)

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 rs147314430...

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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 Sep 06, 2021