U.S. flag

An official website of the United States government

NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr) AND desflurane response - Toxicity

Germline classification:
drug response (1 submission)
Last evaluated:
Mar 24, 2021
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:
RCV001787986.10

Allele description [Variation Report for NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr)]

NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr)

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.7048G>A (p.Ala2350Thr)
Other names:
NM_000540.3(RYR1):c.7048G>A
HGVS:
  • NC_000019.10:g.38499655G>A
  • NG_008866.1:g.70956G>A
  • NM_000540.3:c.7048G>AMANE SELECT
  • NM_001042723.2:c.7048G>A
  • NP_000531.2:p.Ala2350Thr
  • NP_000531.2:p.Ala2350Thr
  • NP_001036188.1:p.Ala2350Thr
  • LRG_766t1:c.7048G>A
  • LRG_766:g.70956G>A
  • LRG_766p1:p.Ala2350Thr
  • NC_000019.9:g.38990295G>A
  • NM_000540.2:c.7048G>A
  • P21817:p.Ala2350Thr
  • p.(Ala2350Thr)
Protein change:
A2350T
Links:
PharmGKB: 1445400232PA164749136; PharmGKB: 1445400232PA449461; PharmGKB: 1445400232PA449845; PharmGKB: 1445400232PA450106; PharmGKB: 1445400232PA450434; PharmGKB: 1445400232PA451341; PharmGKB: 1445400232PA451522; UniProtKB: P21817#VAR_045721; dbSNP: rs193922802
NCBI 1000 Genomes Browser:
rs193922802
Molecular consequence:
  • NM_000540.3:c.7048G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.7048G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
desflurane response - Toxicity
Identifiers:

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000925568PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)
drug response
(Mar 24, 2021)
Condition: desflurane response - Toxicity
Drug reported used for: Malignant Hyperthermia
germlinecuration

PubMed (10)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.

Sambuughin N, Nelson TE, Jankovic J, Xin C, Meissner G, Mullakandov M, Ji J, Rosenberg H, Sivakumar K, Goldfarb LG.

Neuromuscul Disord. 2001 Sep;11(6-7):530-7.

PubMed [citation]
PMID:
11525881

Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene.

Sei Y, Sambuughin NN, Davis EJ, Sachs D, Cuenca PB, Brandom BW, Tautz T, Rosenberg H, Nelson TE, Muldoon SM.

Anesthesiology. 2004 Oct;101(4):824-30.

PubMed [citation]
PMID:
15448513
See all PubMed Citations (10)

Details of each submission

From PharmGKB, SCV000925568.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (10)

Description

PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.

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

Last Updated: Jul 15, 2024