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NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del) AND Congenital multicore myopathy with external ophthalmoplegia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 5, 2018
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:
RCV000662002.4

Allele description [Variation Report for NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del)]

NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del)
Other names:
LRG_766:g.57093_57095CTC[1]
HGVS:
  • NC_000019.10:g.38485792CTC[1]
  • NG_008866.1:g.57093CTC[1]
  • NM_000540.3:c.5137CTC[1]MANE SELECT
  • NM_001042723.2:c.5137CTC[1]
  • NP_000531.2:p.Leu1714del
  • NP_001036188.1:p.Leu1714del
  • LRG_766t1:c.5140_5142del
  • LRG_766:g.57093CTC[1]
  • NC_000019.9:g.38976431_38976433del
  • NC_000019.9:g.38976432CTC[1]
  • NM_000540.2:c.5140_5142del
  • NM_000540.2:c.5140_5142delCTC
Protein change:
L1714del
Links:
dbSNP: rs1438501767
NCBI 1000 Genomes Browser:
rs1438501767
Molecular consequence:
  • NM_000540.3:c.5137CTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042723.2:c.5137CTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000784334Genomic Research Center, Shahid Beheshti University of Medical Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 5, 2018) 		inheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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 Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000784334.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 29, 2024