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NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del) AND isoflurane 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:
RCV001787982.10

Allele description [Variation Report for NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)]

NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)
Other names:
E2347del; NM_001042723.2(RYR1):c.7039_7041GAG[1]; p.Glu2348del
HGVS:
  • NC_000019.10:g.38499646GAG[1]
  • NC_000019.10:g.38499646_38499648del
  • NG_008866.1:g.70947GAG[1]
  • NM_000540.3:c.7039GAG[1]MANE SELECT
  • NM_001042723.2:c.7039GAG[1]
  • NP_000531.2:p.Glu2348del
  • NP_001036188.1:p.Glu2348del
  • LRG_766:g.70947GAG[1]
  • NC_000019.10:g.38499646_38499648GAG[1]
  • NC_000019.10:g.38499646_38499648del
  • NC_000019.9:g.38990285_38990287del
  • NC_000019.9:g.38990286GAG[1]
  • NM_000540.2:c.7042_7044delGAG
  • p.(Glu2348del)
Protein change:
E2348del; GLU2347DEL
Links:
OMIM: 180901.0017; OMIM: 180901.0041; dbSNP: rs121918596
NCBI 1000 Genomes Browser:
rs121918596
Molecular consequence:
  • NM_000540.3:c.7039GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042723.2:c.7039GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
isoflurane response - Toxicity
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000925305PharmGKB
reviewed by expert panel

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

PubMed (3)
[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

Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.

Sambuughin N, McWilliams S, de Bantel A, Sivakumar K, Nelson TE.

Am J Hum Genet. 2001 Jul;69(1):204-8. Epub 2001 May 29.

PubMed [citation]
PMID:
11389482
PMCID:
PMC1226035

Functional analysis of RYR1 variants linked to malignant hyperthermia.

Stephens J, Schiemann AH, Roesl C, Miller D, Massey S, Pollock N, Bulger T, Stowell K.

Temperature (Austin). 2016 Apr-Jun;3(2):328-339.

PubMed [citation]
PMID:
27857962
PMCID:
PMC4964997
See all PubMed Citations (3)

Details of each submission

From PharmGKB, SCV000925305.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (3)

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