NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del) AND Desmin-related myofibrillar myopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 3, 2022
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:: RCV002893994.3

Allele description [Variation Report for NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del)]

NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del)

HGVS:

NC_000002.12:g.219418999_219419016del
NG_008043.1:g.5623_5640del
NM_001382708.1:c.537_554del
NM_001382709.1:c.537_554del
NM_001382710.1:c.537_554del
NM_001382711.1:c.537_554del
NM_001382712.1:c.537_554del
NM_001382713.1:c.495+42_495+59del
NM_001927.4:c.537_554delMANE SELECT
NP_001369637.1:p.Glu179_Leu184del
NP_001369638.1:p.Glu179_Leu184del
NP_001369639.1:p.Glu179_Leu184del
NP_001369640.1:p.Glu179_Leu184del
NP_001369641.1:p.Glu179_Leu184del
NP_001918.3:p.Glu179_Leu184del
NP_001918.3:p.Glu179_Leu184del
LRG_380t1:c.537_554del18
LRG_380:g.5623_5640del
LRG_380p1:p.Glu179_Leu184del
NC_000002.11:g.220283717_220283734del
NC_000002.11:g.220283721_220283738del
NM_001927.3:c.537_554del18

Molecular consequence:

NM_001382708.1:c.537_554del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382709.1:c.537_554del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382710.1:c.537_554del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382711.1:c.537_554del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382712.1:c.537_554del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001927.4:c.537_554del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382713.1:c.495+42_495+59del - 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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Chromosome neighbors for GEO Profiles (Select 132382933) (20)
GEO Profiles
DPY19L2P1 DPY19L2 pseudogene 1 [Homo sapiens]
DPY19L2P1 DPY19L2 pseudogene 1 [Homo sapiens]
Gene ID:554236

Gene
Gene Links for GEO Profiles (Select 132382933) (1)
Gene
Homo sapiens leucine rich repeat containing 19 (LRRC19), mRNA
Homo sapiens leucine rich repeat containing 19 (LRRC19), mRNA
gi|1653961233|ref|NM_022901.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003231421	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 3, 2022)	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

SCV003231421

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 3, 2022)

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, SCV003231421.2

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

Description

This variant has not been reported in the literature in individuals affected with DES-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is present in population databases (no rsID available, gnomAD no frequency). This variant, c.537_554del, results in the deletion of 6 amino acid(s) of the DES protein (p.Glu179_Leu184del), but otherwise preserves the integrity of the reading frame.

#	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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