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NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del) AND Desmin-related myofibrillar myopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 11, 2016
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:
RCV002265839.9

Allele description [Variation Report for NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del)]

NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del)
HGVS:
  • NC_000002.12:g.219418798_219418806del
  • NG_008043.1:g.5422_5430del
  • NM_001927.4:c.336_344delMANE SELECT
  • NP_001918.3:p.Gln113_Leu115del
  • LRG_380t1:c.336_344del
  • LRG_380:g.5422_5430del
  • NC_000002.11:g.220283520_220283528del
Links:
dbSNP: rs1553603239
NCBI 1000 Genomes Browser:
rs1553603239
Molecular consequence:
  • NM_001927.4:c.336_344del - inframe_deletion - [Sequence Ontology: SO:0001822]
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
SCV000660443Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
no assertion criteria provided
Pathogenic
(Oct 11, 2016) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Russianinheritednot provided1not providednot providednot providednot providedclinical testing

Details of each submission

From Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations, SCV000660443.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Russian1not providednot providedclinical testingnot provided

Description

The diagnosis of left ventricular noncompaction (LVNC) and neuromuscular disease (NMD) for the proband (22 y.o.) was established based on cardiac and neuromuscular symptoms. The diagnosis of desminopathy was established after detection of c.336_344del in DES gene. This variant segregates in the family, was also found in mother with similar symptoms. Proband had underwent heart transplantation due to terminal chronic heart failure. Clinical case was published originally in article (Blagova O.V., Nedostup A.V., Sedov V.P., Kogan E.A., Shestak A.G., Polyak M.E., Zaklyazminskaya E.V. Clin. Experiment. Surg. Petrovsky J. 2017; 5 (3): 34–48.)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritednot providednot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024