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NM_001267550.2(TTN):c.11311+5216G>A

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 2, 2021)
Last evaluated:
Mar 12, 2020
Accession:
VCV000047773.10
Variation ID:
47773
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.11311+5216G>A

Allele ID
56937
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178747908 (GRCh38) GRCh38 UCSC
2: 179612635 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.87895G>A
NC_000002.11:g.179612635C>T
NM_133378.4:c.10360+5216G>A
... more HGVS
Protein change
C4831Y
Other names
p.C4831Y:TGC>TAC
Canonical SPDI
NC_000002.12:178747907:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00599 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00161
Trans-Omics for Precision Medicine (TOPMed) 0.00119
1000 Genomes Project 0.00599
The Genome Aggregation Database (gnomAD) 0.00112
Links
ClinGen: CA141868
dbSNP: rs150615457
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Dec 17, 2014 RCV000041042.5
Likely benign 3 criteria provided, single submitter Jun 24, 2013 RCV000172709.6
Benign 1 criteria provided, single submitter Mar 7, 2020 RCV001088150.2
Benign 1 criteria provided, single submitter Mar 12, 2020 RCV001282651.1
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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
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: SCV000051771.1
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
Benign
(Dec 17, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064733.6
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
p.Cys4831Tyr in exon 46 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 2.35% (390/16604) of … (more)
Benign
(Mar 12, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001157551.2
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Mar 07, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000642634.5
Submitted: (Jan 07, 2021)
Evidence details
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: SCV001744784.3
Submitted: (Sep 02, 2021)
Evidence details
not provided
(Jul 29, 2014)
no assertion provided
Method: clinical testing
not provided
Allele origin: germline
GeneDx
Accession: SCV000238131.2
Submitted: (Jun 04, 2015)
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)

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
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Brownstein CA Genome biology 2014 PMID: 24667040

Text-mined citations for rs150615457...

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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