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NM_001267550.2(TTN):c.11312-4319G>A

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(4);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Sep 2, 2021)
Last evaluated:
Mar 20, 2020
Accession:
VCV000047795.14
Variation ID:
47795
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.11312-4319G>A

Allele ID
56959
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178746240 (GRCh38) GRCh38 UCSC
2: 179610967 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.89563G>A
LRG_391t2:c.16160G>A
NC_000002.11:g.179610967C>T
... more HGVS
Protein change
C5387Y
Other names
p.C5387Y:TGT>TAT
Canonical SPDI
NC_000002.12:178746239:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00287
Exome Aggregation Consortium (ExAC) 0.00293
Trans-Omics for Precision Medicine (TOPMed) 0.00246
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00285
1000 Genomes Project 0.00120
The Genome Aggregation Database (gnomAD), exomes 0.00300
Links
ClinGen: CA141916
dbSNP: rs72648913
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 Mar 20, 2020 RCV001285860.1
Likely benign 1 criteria provided, single submitter - RCV001293138.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Dec 9, 2015 RCV000041064.6
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jul 1, 2018 RCV000172706.7
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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
(-)
criteria provided, single submitter
Method: research
Hypertrophic cardiomyopathy
Allele origin: unknown
Genetics and Genomics Program,Sidra Medicine
Accession: SCV001434128.1
Submitted: (Aug 26, 2020)
Evidence details
Uncertain significance
(Jul 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001153115.6
Submitted: (Jul 04, 2021)
Evidence details
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: SCV000051498.1
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
(Mar 20, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001472362.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The TTN c.16160G>A; p.Cys5387Tyr variant (rs72648913; ClinVar Variation ID: 47795) is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and … (more)
Uncertain significance
(Dec 09, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000238153.7
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
(Nov 19, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000337468.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Feb 10, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064755.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Cys5387Tyr in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (28/7016) of … (more)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001740725.3
Submitted: (Sep 02, 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 rs72648913...

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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 07, 2021