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NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) AND halothane 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:
RCV001787756.10

Allele description [Variation Report for NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)]

NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)

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.14693T>C (p.Ile4898Thr)
Other names:
NM_000540.3(RYR1):c.14693T>C
HGVS:
  • NC_000019.10:g.38584989T>C
  • NG_008866.1:g.156290T>C
  • NM_000540.3:c.14693T>CMANE SELECT
  • NM_001042723.2:c.14678T>C
  • NP_000531.2:p.Ile4898Thr
  • NP_000531.2:p.Ile4898Thr
  • NP_001036188.1:p.Ile4893Thr
  • LRG_766t1:c.14693T>C
  • LRG_766:g.156290T>C
  • LRG_766p1:p.Ile4898Thr
  • NC_000019.9:g.39075629T>C
  • NM_000540.2:c.14693T>C
  • NM_000540.3:c.14693T>C
  • P21817:p.Ile4898Thr
  • p.(Ile4898Thr)
Protein change:
I4893T; ILE4898THR
Links:
PharmGKB: 1183705788PA164749136; PharmGKB: 1183705788PA449461; PharmGKB: 1183705788PA449845; PharmGKB: 1183705788PA450106; PharmGKB: 1183705788PA450434; PharmGKB: 1183705788PA451341; PharmGKB: 1183705788PA451522; UniProtKB: P21817#VAR_045771; OMIM: 180901.0012; dbSNP: rs118192170
NCBI 1000 Genomes Browser:
rs118192170
Molecular consequence:
  • NM_000540.3:c.14693T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.14678T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
halothane response - Toxicity
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000925266PharmGKB
reviewed by expert panel

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

PubMed (4)
[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

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.

Lynch PJ, Tong J, Lehane M, Mallet A, Giblin L, Heffron JJ, Vaughan P, Zafra G, MacLennan DH, McCarthy TV.

Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):4164-9.

PubMed [citation]
PMID:
10097181
PMCID:
PMC22438

Malignant hyperthermia and central core disease causative mutations in Swedish patients.

Broman M, Islander G, Müller CR, Ranklev-Twetman E.

Acta Anaesthesiol Scand. 2007 Jan;51(1):50-3. Epub 2006 Nov 1.

PubMed [citation]
PMID:
17081152
See all PubMed Citations (4)

Details of each submission

From PharmGKB, SCV000925266.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (4)

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: Sep 29, 2024