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NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
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:
RCV002262610.2

Allele description [Variation Report for NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)]

NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)

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.14126C>T (p.Thr4709Met)
Other names:
NM_000540.3(RYR1):c.14126C>T
HGVS:
  • NC_000019.10:g.38573304C>T
  • NG_008866.1:g.144605C>T
  • NM_000540.3:c.14126C>TMANE SELECT
  • NM_001042723.2:c.14111C>T
  • NP_000531.2:p.Thr4709Met
  • NP_000531.2:p.Thr4709Met
  • NP_001036188.1:p.Thr4704Met
  • LRG_766t1:c.14126C>T
  • LRG_766:g.144605C>T
  • LRG_766p1:p.Thr4709Met
  • NC_000019.9:g.39063944C>T
  • NM_000540.2:c.14126C>T
  • NP_000531.2:p.T4709M
Protein change:
T4704M
Links:
dbSNP: rs118192140
NCBI 1000 Genomes Browser:
rs118192140
Molecular consequence:
  • NM_000540.3:c.14126C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.14111C>T - 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
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
SCV002543787Suma Genomics, Suma Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicinheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot 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 Suma Genomics, Suma Genomics, SCV002543787.1

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

Last Updated: Oct 8, 2024