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NM_000540.3(RYR1):c.14587_14607del (p.Phe4863_Asp4869del) AND Central core myopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 15, 2003
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:
RCV000013858.26

Allele description [Variation Report for NM_000540.3(RYR1):c.14587_14607del (p.Phe4863_Asp4869del)]

NM_000540.3(RYR1):c.14587_14607del (p.Phe4863_Asp4869del)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.14587_14607del (p.Phe4863_Asp4869del)
HGVS:
  • NC_000019.10:g.38580445_38580465del
  • NG_008866.1:g.151746_151766del
  • NM_000540.3:c.14587_14607delMANE SELECT
  • NM_001042723.2:c.14572_14592del
  • NP_000531.2:p.Phe4863_Asp4869del
  • NP_001036188.1:p.Phe4858_Asp4864del
  • LRG_766:g.151746_151766del
  • NC_000019.9:g.39071085_39071105del
Links:
OMIM: 180901.0024; dbSNP: rs118192169
NCBI 1000 Genomes Browser:
rs118192169
Molecular consequence:
  • NM_000540.3:c.14587_14607del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042723.2:c.14572_14592del - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034105OMIM
no assertion criteria provided
Pathogenic
(Feb 15, 2003) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.

Zorzato F, Yamaguchi N, Xu L, Meissner G, Müller CR, Pouliquin P, Muntoni F, Sewry C, Girard T, Treves S.

Hum Mol Genet. 2003 Feb 15;12(4):379-88.

PubMed [citation]
PMID:
12566385

Details of each submission

From OMIM, SCV000034105.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In DNA from a patient with congenital myopathy-1A (CMYO1A; 117000), Zorzato et al. (2003) detected a heterozygous deletion of nucleotides 14588 to 14606 in exon 101 of the RYR1 gene. The deletion was also detected in the patient's mildly affected mother. The deletion was predicted to result in the deletion of 7 amino acids (4863-4869, FYNKSED) and insertion of a novel tyrosine residue in the pore-forming region of the sarcoplasmic reticulum calcium release channel. Heterologous expression of recombinant RYR1 peptides and analysis of their membrane topology demonstrated that the deleted amino acids are localized in the luminal loop connecting membrane-spanning segments M8 and M10.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2024