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NM_000540.3(RYR1):c.10441-48G>A AND Congenital multicore myopathy with external ophthalmoplegia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 29, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003334425.1

Allele description [Variation Report for NM_000540.3(RYR1):c.10441-48G>A]

NM_000540.3(RYR1):c.10441-48G>A

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.10441-48G>A
HGVS:
  • NC_000019.10:g.38523867G>A
  • NG_008866.1:g.95168G>A
  • NM_000540.3:c.10441-48G>AMANE SELECT
  • NM_001042723.2:c.10440+558G>A
  • LRG_766:g.95168G>A
  • NC_000019.9:g.39014507G>A
Molecular consequence:
  • NM_000540.3:c.10441-48G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042723.2:c.10440+558G>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV004042749Human Genetics Bochum, Ruhr University Bochum
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 29, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries.

Shillington A, Zea Vera A, Perry T, Hopkin R, Thomas C, Cooper D, Suhrie K.

Mol Genet Genomic Med. 2021 Oct;9(10):e1804. doi: 10.1002/mgg3.1804. Epub 2021 Sep 16.

PubMed [citation]
PMID:
34528764
PMCID:
PMC8580091

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Human Genetics Bochum, Ruhr University Bochum, SCV004042749.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

ACMG criteria used to clasify this variant: PS3, PS4_SUP, PM2_SUP, PM3

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

Last Updated: Jul 29, 2024