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NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 29, 2021
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:
RCV002503701.1

Allele description [Variation Report for NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)]

NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)

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.13044G>A (p.Ala4348=)
HGVS:
  • NC_000019.10:g.38565378G>A
  • NG_008866.1:g.136679G>A
  • NM_000540.3:c.13044G>AMANE SELECT
  • NM_001042723.2:c.13029G>A
  • NP_000531.2:p.Ala4348=
  • NP_000531.2:p.Ala4348=
  • NP_001036188.1:p.Ala4343=
  • LRG_766t1:c.13044G>A
  • LRG_766:g.136679G>A
  • LRG_766p1:p.Ala4348=
  • NC_000019.9:g.39056018G>A
  • NM_000540.2:c.13044G>A
Links:
dbSNP: rs794727985
NCBI 1000 Genomes Browser:
rs794727985
Molecular consequence:
  • NM_000540.3:c.13044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042723.2:c.13029G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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:
Malignant hyperthermia, susceptibility to, 1 (MHS1)
Synonyms:
Anesthesia related hyperthermia; Malignant hyperpyrexia; Fulminating hyperpyrexia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007783; MedGen: C2930980; Orphanet: 423; OMIM: 145600
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
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
Name:
King Denborough syndrome (KDS)
Synonyms:
King syndrome
Identifiers:
MONDO: MONDO:0020485; MedGen: C1840365; OMIM: 619542

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002816401Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 29, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002816401.1

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

Last Updated: Oct 26, 2024