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NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln)

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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: Sep 24, 2021)
Last evaluated:
Mar 18, 2021
Accession:
VCV000047449.3
Variation ID:
47449
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln)

Allele ID
56613
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178560363 (GRCh38) GRCh38 UCSC
2: 179425090 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.275440G>A
NC_000002.11:g.179425090C>T
NC_000002.12:g.178560363C>T
... more HGVS
Protein change
R28590Q, R26022Q, R19650Q, R19717Q, R19525Q, R26949Q
Other names
-
Canonical SPDI
NC_000002.12:178560362:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00011
The Genome Aggregation Database (gnomAD) 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Links
ClinGen: CA141039
dbSNP: rs375667028
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 Feb 20, 2013 RCV000040718.2
Likely benign 1 criteria provided, single submitter Mar 18, 2021 RCV000832933.2
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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
(Feb 20, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064409.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The Arg26022Gln variant in TTN has not been reported in the literature nor previ ously identified by our laboratory but has been identified in 1/8208 … (more)
Likely benign
(Mar 18, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000974690.1
Submitted: (Sep 24, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs375667028...

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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 26, 2021