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NM_001267550.2(TTN):c.11311+1341T>C

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 21, 2019)
Last evaluated:
Mar 23, 2017
Accession:
VCV000047728.2
Variation ID:
47728
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.11311+1341T>C

Allele ID
56892
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178751783 (GRCh38) GRCh38 UCSC
2: 179616510 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.12:g.178751783A>G
NC_000002.11:g.179616510A>G
NM_001267550.2:c.11311+1341T>C MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:178751782:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00080
The Genome Aggregation Database (gnomAD) 0.00022
Exome Aggregation Consortium (ExAC) 0.00059
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00049
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
Links
ClinGen: CA141792
dbSNP: rs200284932
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 3 criteria provided, multiple submitters, no conflicts Mar 23, 2017 RCV000040997.4
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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 - - GRCh38
GRCh37
7296 17194

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jul 24, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064688.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
His3539His in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue … (more)
Benign
(Aug 27, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000515084.4
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
(Mar 23, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000707092.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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 rs200284932...

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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 Jul 07, 2021