NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del) AND Congenital multicore myopathy with external ophthalmoplegia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 5, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000171131.15

Allele description [Variation Report for NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)]

NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)

Gene:

RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)

Other names:

E2347del; NM_001042723.2(RYR1):c.7039_7041GAG[1]; p.Glu2348del

HGVS:

NC_000019.10:g.38499646GAG[1]
NC_000019.10:g.38499646_38499648del
NG_008866.1:g.70947GAG[1]
NM_000540.3:c.7039GAG[1]MANE SELECT
NM_001042723.2:c.7039GAG[1]
NP_000531.2:p.Glu2348del
NP_001036188.1:p.Glu2348del
LRG_766:g.70947GAG[1]
NC_000019.10:g.38499646_38499648GAG[1]
NC_000019.10:g.38499646_38499648del
NC_000019.9:g.38990285_38990287del
NC_000019.9:g.38990286GAG[1]
NM_000540.2:c.7042_7044delGAG
p.(Glu2348del)

Protein change:

E2348del; GLU2347DEL

Links:

OMIM: 180901.0017; OMIM: 180901.0041; dbSNP: rs121918596

NCBI 1000 Genomes Browser:

rs121918596

Molecular consequence:

NM_000540.3:c.7039GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001042723.2:c.7039GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Congenital multicore myopathy with external ophthalmoplegia (CMYO1B)
Synonyms:: MULTICORE MYOPATHY; Minicore myopathy with external ophthalmoplegia; Multicore myopathy with external ophthalmoplegia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009712; MedGen: C1850674; Orphanet: 598; OMIM: 255320; Human Phenotype Ontology: HP:0003789

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000223697	OMIM	no assertion criteria provided	Pathogenic (Dec 5, 2014)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000223697

OMIM

no assertion criteria provided

Pathogenic
(Dec 5, 2014)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

McKie AB, Alsaedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G, Park SM, van der Smagt JJ, Bugiani M, Maher ER.

Acta Neuropathol Commun. 2014 Dec 5;2:148. doi: 10.1186/s40478-014-0148-0.

PubMed [citation]

PMID:: 25476234
PMCID:: PMC4271450

Details of each submission

From OMIM, SCV000223697.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 fetuses, conceived of consanguineous Palestinian parents, with congenital myopathy-1B (CMYO1B; 255320) presenting as lethal fetal akinesia, McKie et al. (2014) identified a homozygous 3-bp deletion (c.7043_7045delGAG, NM_000540.2) in the RYR1 gene, resulting in the deletion of the conserved residue glu2347 (E2347del). Each unaffected parent was heterozygous for the mutation. The family was 1 of 36 with a similar phenotype who underwent direct sequencing of the RYR1 gene. Functional studies of the variant were not performed. A different 3-bp deletion results in the deletion of the same residue (180901.0017).

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

Last Updated: Sep 29, 2024

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