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NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Apr 12, 2019)
Last evaluated:
Mar 20, 2018
Accession:
VCV000405048.2
Variation ID:
405048
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro)

Allele ID
391675
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178566249 (GRCh38) GRCh38 UCSC
2: 179430976 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.269554G>C
NC_000002.11:g.179430976C>G
NC_000002.12:g.178566249C>G
... more HGVS
Protein change
R26628P, R24060P, R17563P, R17755P, R17688P, R24987P
Other names
-
Canonical SPDI
NC_000002.12:178566248:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00016
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00017
The Genome Aggregation Database (gnomAD) 0.00016
Links
ClinGen: CA1989422
dbSNP: rs201091376
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 RCV000464905.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Mar 20, 2018 RCV000597470.2
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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
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: SCV000542950.3
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Jun 06, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000709122.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Mar 20, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000977668.1
Submitted: (Apr 12, 2019)
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)

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 rs201091376...

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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 Oct 08, 2021