• delete

NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) AND methoxyflurane response - Toxicity/ADR

Germline classification:
drug response (1 submission)
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000786577.2

Allele description

NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)

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.7300G>A (p.Gly2434Arg)
HGVS:
  • NC_000019.10:g.38499993G>A
  • NG_008866.1:g.71294G>A
  • NM_000540.3:c.7300G>AMANE SELECT
  • NM_001042723.2:c.7300G>A
  • NP_000531.2:p.Gly2434Arg
  • NP_000531.2:p.Gly2434Arg
  • NP_001036188.1:p.Gly2434Arg
  • LRG_766t1:c.7300G>A
  • LRG_766:g.71294G>A
  • LRG_766p1:p.Gly2434Arg
  • NC_000019.9:g.38990633G>A
  • NM_000540.2:c.7300G>A
  • P21817:p.Gly2434Arg
  • p.(Gly2434Arg)
  • r.(?)
  • r.7300g>a
Protein change:
G2434R; GLY2434ARG
Links:
PharmGKB: 1183705812PA164749136; PharmGKB: 1183705812PA449461; PharmGKB: 1183705812PA449845; PharmGKB: 1183705812PA450106; PharmGKB: 1183705812PA450434; PharmGKB: 1183705812PA451341; PharmGKB: 1183705812PA451522; UniProtKB: P21817#VAR_005605; OMIM: 180901.0007; dbSNP: rs121918593
NCBI 1000 Genomes Browser:
rs121918593
Molecular consequence:
  • NM_000540.3:c.7300G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.7300G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
methoxyflurane response - Toxicity/ADR
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000925399PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)		drug response
Condition: methoxyflurane response - Toxicity/ADR
Drug reported used for: Malignant Hyperthermia		germlinecuration

PubMed (36)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

Brandt A, Schleithoff L, Jurkat-Rott K, Klingler W, Baur C, Lehmann-Horn F.

Hum Mol Genet. 1999 Oct;8(11):2055-62.

PubMed [citation]
PMID:
10484775

Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes.

Brinkmeier H, Krämer J, Krämer R, Iaizzo PA, Baur C, Lehmann-Horn F, Rüdel R.

Br J Anaesth. 1999 Dec;83(6):855-61.

PubMed [citation]
PMID:
10700782
See all PubMed Citations (36)

Details of each submission

From PharmGKB, SCV000925399.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (36)

Description

PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021