NM_001927.4(DES):c.717_725del (p.Lys240_Val242del) AND Desmin-related myofibrillar myopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 9, 2023
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:: RCV003803780.2

Allele description [Variation Report for NM_001927.4(DES):c.717_725del (p.Lys240_Val242del)]

NM_001927.4(DES):c.717_725del (p.Lys240_Val242del)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.717_725del (p.Lys240_Val242del)

HGVS:

NC_000002.12:g.219420328_219420336del
NG_008043.1:g.6952_6960del
NM_001382708.1:c.714_722del
NM_001382709.1:c.717_725del
NM_001382710.1:c.717_725del
NM_001382711.1:c.717_725del
NM_001382712.1:c.717_725del
NM_001382713.1:c.496-197_496-189del
NM_001927.4:c.717_725delMANE SELECT
NP_001369637.1:p.Lys239_Val241del
NP_001369638.1:p.Lys240_Val242del
NP_001369639.1:p.Lys240_Val242del
NP_001369640.1:p.Lys240_Val242del
NP_001369641.1:p.Lys240_Val242del
NP_001918.3:p.Lys240_Val242del
NP_001918.3:p.Lys240_Val242del
LRG_380t1:c.717_725del
LRG_380:g.6952_6960del
LRG_380p1:p.Lys240_Val242del
NC_000002.11:g.220285049_220285057del
NC_000002.11:g.220285050_220285058del
NM_001927.3:c.717_725delTAAGAAAGT

Molecular consequence:

NM_001382708.1:c.714_722del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382709.1:c.717_725del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382710.1:c.717_725del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382711.1:c.717_725del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382712.1:c.717_725del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001927.4:c.717_725del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382713.1:c.496-197_496-189del - intron variant - [Sequence Ontology: SO:0001627]

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

Recent activity

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WGS sequencing of Psychrobacter sp. (ref. 56811)
WGS sequencing of Psychrobacter sp. (ref. 56811)

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WGS sequencing of Enterococcus faecalis (ref. 1351)
WGS sequencing of Enterococcus faecalis (ref. 1351)

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004593932	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 9, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004593932

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 9, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

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, SCV004593932.1

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

Description

This variant, c.717_725del, results in the deletion of 3 amino acid(s) of the DES protein (p.Lys240_Val242del), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Sep 29, 2024

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