U.S. flag

An official website of the United States government

NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro) AND Central core myopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 6, 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:
RCV000770989.2

Allele description [Variation Report for NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro)]

NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro)

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.7856T>C (p.Leu2619Pro)
HGVS:
  • NC_000019.10:g.38502900T>C
  • NG_008866.1:g.74201T>C
  • NM_000540.3:c.7856T>CMANE SELECT
  • NM_001042723.2:c.7856T>C
  • NP_000531.2:p.Leu2619Pro
  • NP_000531.2:p.Leu2619Pro
  • NP_001036188.1:p.Leu2619Pro
  • LRG_766t1:c.7856T>C
  • LRG_766:g.74201T>C
  • LRG_766p1:p.Leu2619Pro
  • NC_000019.9:g.38993540T>C
  • NM_000540.2:c.7856T>C
  • p.(Leu2619Pro)
Protein change:
L2619P
Links:
dbSNP: rs1263237391
NCBI 1000 Genomes Browser:
rs1263237391
Molecular consequence:
  • NM_000540.3:c.7856T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.7856T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Central core myopathy (CMYO1A)
Synonyms:
Central core disease; Central core disease of muscle; Muscle core disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007294; MedGen: C0751951; Orphanet: 597; OMIM: 117000

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000897980Center of Genomic medicine, Geneva, University Hospital of Geneva
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jul 6, 2018)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot 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 Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000897980.1

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

Last Updated: Jul 29, 2024