NM_001927.4(DES):c.89_109del (p.Leu30_Pro36del) AND Desmin-related myofibrillar myopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 16, 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:: RCV004720211.1

Allele description [Variation Report for NM_001927.4(DES):c.89_109del (p.Leu30_Pro36del)]

NM_001927.4(DES):c.89_109del (p.Leu30_Pro36del)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.89_109del (p.Leu30_Pro36del)

HGVS:

NC_000002.12:g.219418551_219418571del
NG_008043.1:g.5175_5195del
NG_046330.1:g.18943_18944del
NM_001382708.1:c.89_109del
NM_001382709.1:c.89_109del
NM_001382710.1:c.89_109del
NM_001382711.1:c.89_109del
NM_001382712.1:c.89_109del
NM_001382713.1:c.89_109del
NM_001927.4:c.89_109delMANE SELECT
NP_001369637.1:p.Leu30_Pro36del
NP_001369638.1:p.Leu30_Pro36del
NP_001369639.1:p.Leu30_Pro36del
NP_001369640.1:p.Leu30_Pro36del
NP_001369641.1:p.Leu30_Pro36del
NP_001369642.1:p.Leu30_Pro36del
NP_001918.3:p.Leu30_Pro36del
NP_001918.3:p.Leu30_Pro36del
LRG_380t1:c.89_109del
LRG_380:g.5175_5195del
NC_000002.11:g.220283273_220283293del
NM_001927.3:c.89_109del
NM_001927.3:c.89_109del21

Molecular consequence:

NM_001382708.1:c.89_109del - inframe deletion - [Sequence Ontology: SO:0001822]
NM_001382709.1:c.89_109del - inframe deletion - [Sequence Ontology: SO:0001822]
NM_001382710.1:c.89_109del - inframe deletion - [Sequence Ontology: SO:0001822]
NM_001382711.1:c.89_109del - inframe deletion - [Sequence Ontology: SO:0001822]
NM_001382712.1:c.89_109del - inframe deletion - [Sequence Ontology: SO:0001822]
NM_001382713.1:c.89_109del - inframe deletion - [Sequence Ontology: SO:0001822]
NM_001927.4:c.89_109del - inframe deletion - [Sequence Ontology: SO:0001822]

Observations:

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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leucine-rich repeat-containing protein 43 [Dromaius novaehollandiae]
leucine-rich repeat-containing protein 43 [Dromaius novaehollandiae]
gi|2718509680|ref|XP_064378507.1|

Protein
lysozyme C, milk isozyme-like [Dromaius novaehollandiae]
lysozyme C, milk isozyme-like [Dromaius novaehollandiae]
gi|2718520556|ref|XP_064364135.1|

Protein
Rattus norvegicus P2u receptor protein mRNA, complete cds
Rattus norvegicus P2u receptor protein mRNA, complete cds
gi|1336124|gb|U56839.1|RNU56839

Nucleotide
Hivep2 HIVEP zinc finger 2 [Rattus norvegicus]
Hivep2 HIVEP zinc finger 2 [Rattus norvegicus]
Gene ID:29721

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005237796	Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 16, 2024)	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

SCV005237796

Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 16, 2024)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital, SCV005237796.1

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

Description

This in-frame deletion was detected in a patient with limb and axial weakness, scoliosis, mild sensorimotor neuropathy, early onset atrial fibrillation, progressive cardiomyopathy with atypical features. The variant has only been observed in one heterozygote in population database (gnomAD v4.1.0). The in-frame deletion is located within the filament head region, where multiple surrounding pathogenic missense variants have been reported. Pathogenic variants in the head region of desmin are also associated with a cardiomyopathy phenotype, where it binds with myospryn (PMID: 20718792).

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

Last Updated: Oct 8, 2024

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