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DES, 3-BP DEL, 720GAA

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Mar 15, 2003
Accession:
VCV000016833.1
Variation ID:
16833
Description:
insertion
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DES, 3-BP DEL, 720GAA

Allele ID
31872
Variant type
Insertion
Variant length
-
Cytogenetic location
2q35
Genomic location
-
HGVS
-
Protein change
-
Other names
3-BP DEL, 720GAA
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 125660.0014
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Mar 15, 2003 RCV000018327.29
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DES - - GRCh38
GRCh37
569 607

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 15, 2003)
no assertion criteria provided
Method: literature only
MYOPATHY, MYOFIBRILLAR, 1
Allele origin: germline
OMIM
Accession: SCV000038606.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Schröder R Human molecular genetics 2003 PMID: 12620971

Record last updated Oct 08, 2021