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NM_000540.3(RYR1):c.6732G>A (p.Arg2244=) AND Malignant hyperthermia of anesthesia

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000403046.5

Allele description [Variation Report for NM_000540.3(RYR1):c.6732G>A (p.Arg2244=)]

NM_000540.3(RYR1):c.6732G>A (p.Arg2244=)

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.6732G>A (p.Arg2244=)
HGVS:
  • NC_000019.10:g.38496477G>A
  • NG_008866.1:g.67778G>A
  • NM_000540.3:c.6732G>AMANE SELECT
  • NM_001042723.2:c.6732G>A
  • NP_000531.2:p.Arg2244=
  • NP_000531.2:p.Arg2244=
  • NP_001036188.1:p.Arg2244=
  • LRG_766t1:c.6732G>A
  • LRG_766:g.67778G>A
  • LRG_766p1:p.Arg2244=
  • NC_000019.9:g.38987117G>A
  • NM_000540.2:c.6732G>A
Links:
dbSNP: rs78915828
NCBI 1000 Genomes Browser:
rs78915828
Molecular consequence:
  • NM_000540.3:c.6732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042723.2:c.6732G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Malignant hyperthermia of anesthesia
Synonyms:
Hyperthermia of anesthesia; Anesthesic-triggered malignant hyperthermia
Identifiers:
MONDO: MONDO:0018493; MedGen: C0024591; Human Phenotype Ontology: HP:0034733

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000412377Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016)
Condition: Malignant Hyperthermia Susceptibility		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000412377.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024