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NM_000540.3(RYR1):c.738T>G (p.Tyr246Ter) AND Congenital myopathy with fiber type disproportion

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000034930.3

Allele description [Variation Report for NM_000540.3(RYR1):c.738T>G (p.Tyr246Ter)]

NM_000540.3(RYR1):c.738T>G (p.Tyr246Ter)

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.738T>G (p.Tyr246Ter)
HGVS:
  • NC_000019.10:g.38446706T>G
  • NG_008866.1:g.18007T>G
  • NM_000540.3:c.738T>GMANE SELECT
  • NM_001042723.2:c.738T>G
  • NP_000531.2:p.Tyr246Ter
  • NP_000531.2:p.Tyr246Ter
  • NP_001036188.1:p.Tyr246Ter
  • LRG_766t1:c.738T>G
  • LRG_766:g.18007T>G
  • LRG_766p1:p.Tyr246Ter
  • NC_000019.9:g.38937346T>G
  • NM_000540.2:c.738T>G
Protein change:
Y246*
Links:
dbSNP: rs367543054
NCBI 1000 Genomes Browser:
rs367543054
Molecular consequence:
  • NM_000540.3:c.738T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001042723.2:c.738T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Congenital myopathy with fiber type disproportion
Synonyms:
Congenital fiber-type disproportion myopathy; Congenital Fiber-Type Disproportion
Identifiers:
MONDO: MONDO:0009711; MedGen: C0546264; Orphanet: 2020

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000058537GeneReviews
no classification provided
not providedunknownliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN.

Hum Mutat. 2010 Jul;31(7):E1544-50. doi: 10.1002/humu.21278.

PubMed [citation]
PMID:
20583297

Congenital Fiber-Type Disproportion – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.

DeChene ET, Kang PB, Beggs AH.

2007 Jan 12 [updated 2013 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301436

Details of each submission

From GeneReviews, SCV000058537.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Jul 29, 2023