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NM_000540.3(RYR1):c.1739_1742dup (p.His581fs) AND Congenital multicore myopathy with external ophthalmoplegia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2008
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:
RCV000013867.26

Allele description [Variation Report for NM_000540.3(RYR1):c.1739_1742dup (p.His581fs)]

NM_000540.3(RYR1):c.1739_1742dup (p.His581fs)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.1739_1742dup (p.His581fs)
HGVS:
  • NC_000019.10:g.38455699_38455702dup
  • NG_008866.1:g.27000_27003dup
  • NM_000540.3:c.1739_1742dupMANE SELECT
  • NM_001042723.2:c.1739_1742dup
  • NP_000531.2:p.His581fs
  • NP_001036188.1:p.His581fs
  • LRG_766:g.27000_27003dup
  • NC_000019.9:g.38946337_38946338insAATC
  • NC_000019.9:g.38946339_38946342dup
  • NM_000540.2:c.1739_1742dupATCA
  • p.(His581Glnfs*30)
Protein change:
H581fs
Links:
OMIM: 180901.0032; dbSNP: rs193922771
NCBI 1000 Genomes Browser:
rs193922771
Molecular consequence:
  • NM_000540.3:c.1739_1742dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042723.2:c.1739_1742dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000034114OMIM
no assertion criteria provided
Pathogenic
(May 1, 2008) 		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

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J.

Hum Mutat. 2008 May;29(5):670-8. doi: 10.1002/humu.20696.

PubMed [citation]
PMID:
18253926

Details of each submission

From OMIM, SCV000034114.4

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

Description

In a 9-year-old Dutch boy with a severe form of autosomal recessive congenital myopathy-1B (CMYO1B; 255320), Monnier et al. (2008) detected compound heterozygous mutations in the RYR1 gene: V4849I (180901.0022) and a 4-bp insertion (c.1742insATCA). The patient had severe neonatal hypotonia, delayed motor development, amyotrophy, kyphoscoliosis, required ventilatory assistance at age 4 years, and was never able to walk. A sister had died at age 5 years of myopathic respiratory insufficiency. The 4-bp insertion was predicted to result in a premature stop codon and an unstable truncated protein.

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

Last Updated: Sep 29, 2024