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NM_000540.3(RYR1):c.14365-2A>T AND Congenital multicore myopathy with external ophthalmoplegia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 27, 2005
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:
RCV000013862.26

Allele description [Variation Report for NM_000540.3(RYR1):c.14365-2A>T]

NM_000540.3(RYR1):c.14365-2A>T

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.14365-2A>T
HGVS:
  • NC_000019.10:g.38579980A>T
  • NG_008866.1:g.151281A>T
  • NG_147983.1:g.530A>T
  • NM_000540.3:c.14365-2A>TMANE SELECT
  • NM_001042723.2:c.14350-2A>T
  • LRG_766t1:c.14365-2A>T
  • LRG_766:g.151281A>T
  • NC_000019.9:g.39070620A>T
  • NM_000540.2:c.14365-2A>T
  • p.Ser4789_Lys4822del
Nucleotide change:
IVS99AS, A-T, -2
Links:
OMIM: 180901.0028; dbSNP: rs193922870
NCBI 1000 Genomes Browser:
rs193922870
Molecular consequence:
  • NM_000540.3:c.14365-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001042723.2:c.14350-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034109OMIM
no assertion criteria provided
Pathogenic
(Dec 27, 2005) 		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

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Müller C, Muntoni F.

Neurology. 2005 Dec 27;65(12):1930-5.

PubMed [citation]
PMID:
16380615

Details of each submission

From OMIM, SCV000034109.4

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

Description

In 2 sibs (family 5) with congenital myopathy-1B (CMYO1B; 255320) manifest as minicore myopathy with external ophthalmoplegia, Jungbluth et al. (2005) identified compound heterozygosity for 2 mutations in the RYR1 gene: an A-to-T transversion in intron 99 (c.14365-2A-T), resulting in a splice site mutation, and a c.10349C-T transition in exon 68, resulting in a ser3450-to-phe (S3450F) substitution (180901.0029).

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

Last Updated: Jul 29, 2024