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NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jun 3, 2020)
Last evaluated:
Jul 29, 2019
Accession:
VCV000165893.3
Variation ID:
165893
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe)

Allele ID
172842
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178583154 (GRCh38) GRCh38 UCSC
2: 179447881 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.252649G>T
NC_000002.11:g.179447881C>A
NC_000002.12:g.178583154C>A
... more HGVS
Protein change
L19315F, L21883F, L13010F, L12943F, L20242F, L12818F
Other names
-
Canonical SPDI
NC_000002.12:178583153:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00010
The Genome Aggregation Database (gnomAD) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00017
Exome Aggregation Consortium (ExAC) 0.00019
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA178602
dbSNP: rs374736305
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 Jul 29, 2019 RCV000152253.2
Uncertain significance 1 criteria provided, single submitter Aug 23, 2018 RCV000734883.1
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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
7705 17950
TTN-AS1 - - - GRCh38 - 10017

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 23, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000863061.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jul 29, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000201072.6
Submitted: (Jun 03, 2020)
Evidence details
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory

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 rs374736305...

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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 27, 2021