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NM_001927.4(DES):c.735+1G>A

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 15, 2021)
Last evaluated:
May 20, 2019
Accession:
VCV000044268.5
Variation ID:
44268
Description:
single nucleotide variant
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NM_001927.4(DES):c.735+1G>A

Allele ID
53435
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 219420347 (GRCh38) GRCh38 UCSC
2: 220285069 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.220285069G>A
NC_000002.12:g.219420347G>A
NM_001927.4:c.735+1G>A MANE Select splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:219420346:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA261522
dbSNP: rs397516698
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter May 22, 2017 RCV000037249.7
Pathogenic 1 criteria provided, single submitter Jun 23, 2016 RCV000393713.2
Pathogenic 1 criteria provided, single submitter May 20, 2019 RCV001220792.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Jun 23, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000343204.4
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (2)
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(May 22, 2017)
criteria provided, single submitter
Method: clinical testing
Myofibrillar myopathy 1
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000060906.5
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (3)
Comment:
The c.735+1G>A variant in DES has been reported in at least 2 individuals with d esminopathy (Shatunov et al., unpublished data; reviewed by Goldfarb 2004, … (more)
Pathogenic
(May 20, 2019)
criteria provided, single submitter
Method: clinical testing
Muscular dystrophy, limb-girdle, type 2R
Myofibrillar myopathy 1
Allele origin: germline
Invitae
Accession: SCV001392803.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change affects a donor splice site in intron 3 of the DES gene. It is expected to disrupt RNA splicing and likely results … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Myofibrillar myopathy 1
Allele origin: germline
Genomics England Pilot Project,Genomics England
Accession: SCV001760073.1
Submitted: (Jul 15, 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
A novel phenotype with splicing mutation identified in a Chinese family with desminopathy. Fan P Chinese medical journal 2019 PMID: 30614851
Generation of iPSC line from desmin-related cardiomyopathy patient carrying splice site mutation of DES gene. Khudiakov A Stem cell research 2017 PMID: 29034897
Restrictive cardiomyopathy due to novel desmin gene mutation. Ojrzyńska N Kardiologia polska 2017 PMID: 28703267
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities. Henderson M Acta neuropathologica 2013 PMID: 23575897
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes. Gudkova A Pediatric cardiology 2013 PMID: 22484823
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
Desmin myopathy. Goldfarb LG Brain : a journal of neurology 2004 PMID: 14724127
Desmin splice variants causing cardiac and skeletal myopathy. Park KY Journal of medical genetics 2000 PMID: 11073539
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DES - - - -

Text-mined citations for rs397516698...

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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 Jul 27, 2021