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NM_001267550.2(TTN):c.57544+7dup

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Nov 16, 2021)
Last evaluated:
Oct 17, 2021
Accession:
VCV000228109.5
Variation ID:
228109
Description:
1bp duplication
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NM_001267550.2(TTN):c.57544+7dup

Allele ID
228714
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178597530-178597531 (GRCh38) GRCh38 UCSC
2: 179462257-179462258 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001267550.2:c.57544+7dupA MANE Select
NM_133378.4:c.49840+7dupA
NC_000002.11:g.179462258dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:178597530:T:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00009
Trans-Omics for Precision Medicine (TOPMed) 0.00011
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00003
The Genome Aggregation Database (gnomAD) 0.00010
Links
ClinGen: CA1993036
dbSNP: rs750881309
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 Dec 6, 2017 RCV000456203.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 17, 2021 RCV000222617.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jan 12, 2018 RCV000727760.3
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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
7638 17883
TTN-AS1 - - - GRCh38 - 10017

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 30, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000271041.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
c.49840+7_49840+8insA in intron 243 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus seq … (more)
Uncertain significance
(Dec 06, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000542528.3
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000855143.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001869989.1
Submitted: (Sep 14, 2021)
Evidence details
Uncertain significance
(Oct 17, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002014952.1
Submitted: (Nov 16, 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 rs750881309...

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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 Nov 20, 2021