NM_001927.4(DES):c.254_255insT (p.Gly86fs) AND Desmin-related myofibrillar myopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 5, 2019
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:: RCV001038112.6

Allele description [Variation Report for NM_001927.4(DES):c.254_255insT (p.Gly86fs)]

NM_001927.4(DES):c.254_255insT (p.Gly86fs)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.254_255insT (p.Gly86fs)

HGVS:

NC_000002.12:g.219418716_219418717insT
NG_008043.1:g.5340_5341insT
NM_001927.4:c.254_255insTMANE SELECT
NP_001918.3:p.Gly86fs
LRG_380t1:c.254_255insT
LRG_380:g.5340_5341insT
NC_000002.11:g.220283438_220283439insT
NM_001927.3:c.254_255insT

Protein change:

G86fs

Links:

dbSNP: rs1273708097

NCBI 1000 Genomes Browser:

rs1273708097

Molecular consequence:

NM_001927.4:c.254_255insT - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001201560	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jun 5, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23575897, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001201560

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jun 5, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001201560.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Gly86Argfs*32) in the DES gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DES-related conditions. Loss-of-function variants in DES are known to be pathogenic (PMID: 23575897). For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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