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NM_001927.4(DES):c.1056GGA[3] (p.Glu353_Asp354insGlu) AND Desmin-related myofibrillar myopathy

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003881698.2

Allele description [Variation Report for NM_001927.4(DES):c.1056GGA[3] (p.Glu353_Asp354insGlu)]

NM_001927.4(DES):c.1056GGA[3] (p.Glu353_Asp354insGlu)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.1056GGA[3] (p.Glu353_Asp354insGlu)
HGVS:
  • NC_000002.12:g.219421372GGA[3]
  • NG_008043.1:g.7996GGA[3]
  • NM_001382708.1:c.1053GGA[3]
  • NM_001382709.1:c.736-112GGA[3]
  • NM_001382710.1:c.1024-37GGA[3]
  • NM_001382711.1:c.1035GGA[3]
  • NM_001382712.1:c.1056GGA[3]
  • NM_001382713.1:c.786GGA[3]
  • NM_001927.4:c.1056GGA[3]MANE SELECT
  • NP_001369637.1:p.Glu352_Asp353insGlu
  • NP_001369640.1:p.Glu346_Asp347insGlu
  • NP_001369641.1:p.Glu353_Asp354insGlu
  • NP_001369642.1:p.Glu263_Asp264insGlu
  • NP_001918.3:p.Glu353_Asp354insGlu
  • NP_001918.3:p.Glu353_Asp354insGlu
  • LRG_380t1:c.1056_1058GGA[3]
  • LRG_380:g.7996GGA[3]
  • LRG_380p1:p.Glu353_Asp354insGlu
  • NC_000002.11:g.220286094GGA[3]
  • NM_001927.3:c.1056_1058GGA[3]
  • NM_001927.4:c.1059_1061dupGGAMANE SELECT
Molecular consequence:
  • NM_001382708.1:c.1053GGA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001382711.1:c.1035GGA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001382712.1:c.1056GGA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001382713.1:c.786GGA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001927.4:c.1056GGA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001382709.1:c.736-112GGA[3] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001382710.1:c.1024-37GGA[3] - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Desmin-related myofibrillar myopathy (MFM1)
Synonyms:
Desminopathy; Desmin related myopathy (former name); Desmin storage myopathy (former name); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011076; MedGen: C1832370; Orphanet: 363543; Orphanet: 98909; OMIM: 601419

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004565348Laboratorio de Investigaciones Aplicadas a Neurociencias, Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia
no assertion criteria provided
Pathogenicinherited, not applicableclinical testing, in vitro

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes31not providednot providednot providedclinical testing
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro

Details of each submission

From Laboratorio de Investigaciones Aplicadas a Neurociencias, Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia, SCV004565348.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
2not providednot providednot providednot providedin vitronot provided

Description

The c.1059_1061dupGGA mutation in DES involves the duplication of Glu at position 353 of DES. According to guidelines of the American College of Medical Genetics and Genomics, in-frame insertions are considered moderate indicative of pathogenicity (Richards et al 2015). Additionally, this mutation is located in exon 6 of the protein, which is part of the highly conserved coil 2B domain (known to govern DES polypeptide assembly into and subsequent higher-order structures; Bar et al 2004; Goebel et al 2011; Walter et al 2007) and where many pathogenic mutations were observed in patients. Moreover, disruptive DES filament assembly was in vitro observed in the presence of the mutation (doi.org/10.21203/rs.3.rs-3805874/v1).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided3not provided1not provided
2not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024