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NM_001927.4(DES):c.112del (p.Ala38fs) AND Desmin-related myofibrillar myopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 28, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002037926.4

Allele description [Variation Report for NM_001927.4(DES):c.112del (p.Ala38fs)]

NM_001927.4(DES):c.112del (p.Ala38fs)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.112del (p.Ala38fs)
HGVS:
  • NC_000002.12:g.219418574del
  • NG_008043.1:g.5198del
  • NM_001382708.1:c.112del
  • NM_001382709.1:c.112del
  • NM_001382710.1:c.112del
  • NM_001382711.1:c.112del
  • NM_001382712.1:c.112del
  • NM_001382713.1:c.112del
  • NM_001927.4:c.112delMANE SELECT
  • NP_001369637.1:p.Ala38fs
  • NP_001369638.1:p.Ala38fs
  • NP_001369639.1:p.Ala38fs
  • NP_001369640.1:p.Ala38fs
  • NP_001369641.1:p.Ala38fs
  • NP_001369642.1:p.Ala38fs
  • NP_001918.3:p.Ala38fs
  • LRG_380:g.5198del
  • NC_000002.11:g.220283294del
  • NC_000002.11:g.220283296del
Protein change:
A38fs
Links:
dbSNP: rs2125165857
NCBI 1000 Genomes Browser:
rs2125165857
Molecular consequence:
  • NM_001382708.1:c.112del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001382709.1:c.112del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001382710.1:c.112del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001382711.1:c.112del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001382712.1:c.112del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001382713.1:c.112del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001927.4:c.112del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002228721Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Jan 28, 2024)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.

Henderson M, De Waele L, Hudson J, Eagle M, Sewry C, Marsh J, Charlton R, He L, Blakely EL, Horrocks I, Stewart W, Taylor RW, Longman C, Bushby K, Barresi R.

Acta Neuropathol. 2013 Jun;125(6):917-9. doi: 10.1007/s00401-013-1113-x. Epub 2013 Apr 11. No abstract available.

PubMed [citation]
PMID:
23575897

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002228721.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Ala38Argfs*12) in the DES gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DES are known to be pathogenic (PMID: 23575897). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DES-related conditions. ClinVar contains an entry for this variant (Variation ID: 1453500). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024