NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del) AND Central core myopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 15, 2001
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:: RCV000013851.19

Allele description [Variation Report for NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del)]

NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del)

HGVS:

NC_000019.10:g.38564974_38564982del
NG_008866.1:g.136275_136283del
NM_000540.3:c.12640_12648delMANE SELECT
NM_001042723.2:c.12625_12633del
NP_000531.2:p.Arg4214_Phe4216del
NP_001036188.1:p.Arg4209_Phe4211del
LRG_766:g.136275_136283del
NC_000019.9:g.39055614_39055622del
p.(Arg4214_Phe4216del)

Links:

OMIM: 180901.0018; dbSNP: rs118192165

NCBI 1000 Genomes Browser:

rs118192165

Molecular consequence:

NM_000540.3:c.12640_12648del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001042723.2:c.12625_12633del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Central core myopathy (CMYO1A)
Synonyms:: Central core disease; Central core disease of muscle; Muscle core disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007294; MedGen: C0751951; Orphanet: 597; OMIM: 117000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034098	OMIM	no assertion criteria provided	Pathogenic (Oct 15, 2001)	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

SCV000034098

OMIM

no assertion criteria provided

Pathogenic
(Oct 15, 2001)

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

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Landrieu P, Nivoche Y, Fardeau M, Lunardi J.

Hum Mol Genet. 2001 Oct 15;10(22):2581-92.

PubMed [citation]

PMID:: 11709545

Details of each submission

From OMIM, SCV000034098.3

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

Description

In affected members of a 4-generation family (CCD10) with autosomal dominant congenital myopathy-1A (CMYO1A; 117000), Monnier et al. (2001) identified a heterozygous 9-bp deletion (amino acids 12640-12648, 12640delCGCCAGTTC) in exon 91 of the RYR1 gene, eliminating the codons for arg4214, gln4215, and phe4216 from the transcript. The authors noted that these 3 amino acids are conserved among all 3 human RYR genes.

#	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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