NM_000540.3(RYR1):c.2097_2123del (p.Glu699_Gly707del) 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:: RCV000171130.7

Allele description [Variation Report for NM_000540.3(RYR1):c.2097_2123del (p.Glu699_Gly707del)]

NM_000540.3(RYR1):c.2097_2123del (p.Glu699_Gly707del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000540.3(RYR1):c.2097_2123del (p.Glu699_Gly707del)

HGVS:

NC_000019.10:g.38458222_38458248del
NG_008866.1:g.29523_29549del
NM_000540.3:c.2097_2123delMANE SELECT
NM_001042723.2:c.2097_2123del
NP_000531.2:p.Glu699_Gly707del
NP_000531.2:p.Glu699_Gly707del
NP_001036188.1:p.Glu699_Gly707del
LRG_766t1:c.2097_2123del
LRG_766:g.29523_29549del
LRG_766p1:p.Glu699_Gly707del
NC_000019.9:g.38948862_38948888del
NM_000540.2:c.2097_2123del

Links:

OMIM: 180901.0040; dbSNP: rs876661306

NCBI 1000 Genomes Browser:

rs876661306

Molecular consequence:

NM_000540.3:c.2097_2123del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001042723.2:c.2097_2123del - 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
SCV000223696	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

SCV000223696

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, SCV000223696.6

#	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 by consanguineous Pakistani parents, with congenital myopathy-1B (CMYO1B; 255320) presenting as lethal fetal akinesia, McKie et al. (2014) identified a homozygous 27-bp deletion (c.2097_2123del, NM_000540.2) in the RYR1 gene that removes 9 conserved amino acids from the SPRY2 domain and replaces glu699 with asp (glu699_gly707del). Each unaffected parent was heterozygous for the mutation. The family was 1 of 36 with a similar lethal phenotype who underwent direct sequencing of the RYR1 gene. Functional studies of the variant were not performed.

#	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: Jul 29, 2024

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