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NM_000540.3(RYR1):c.14542G>C (p.Val4848Leu) AND Congenital multicore myopathy with external ophthalmoplegia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 2, 2020
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:
RCV001808946.1

Allele description [Variation Report for NM_000540.3(RYR1):c.14542G>C (p.Val4848Leu)]

NM_000540.3(RYR1):c.14542G>C (p.Val4848Leu)

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.14542G>C (p.Val4848Leu)
HGVS:
  • NC_000019.10:g.38580400G>C
  • NG_008866.1:g.151701G>C
  • NM_000540.3:c.14542G>CMANE SELECT
  • NM_001042723.2:c.14527G>C
  • NP_000531.2:p.Val4848Leu
  • NP_001036188.1:p.Val4843Leu
  • LRG_766t1:c.14542G>C
  • LRG_766:g.151701G>C
  • NC_000019.9:g.39071040G>C
  • NM_000540.2:c.14542G>C
Protein change:
V4843L
Links:
dbSNP: rs2145896441
NCBI 1000 Genomes Browser:
rs2145896441
Molecular consequence:
  • NM_000540.3:c.14542G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.14527G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002059225Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 2, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Centogene AG - the Rare Disease Company, SCV002059225.1

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

Last Updated: Sep 29, 2024