NM_000540.3(RYR1):c.7304G>A (p.Arg2435His) AND methoxyflurane response - Toxicity - ClinVar

NM_000540.3(RYR1):c.7304G>A (p.Arg2435His) AND methoxyflurane 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:: RCV001787399.10

Allele description [Variation Report for NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)]

NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)

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.7304G>A (p.Arg2435His)

Other names:

NM_000540.3(RYR1):c.7304G>A

HGVS:

NC_000019.10:g.38499997G>A
NG_008866.1:g.71298G>A
NM_000540.3:c.7304G>AMANE SELECT
NM_001042723.2:c.7304G>A
NP_000531.2:p.Arg2435His
NP_000531.2:p.Arg2435His
NP_001036188.1:p.Arg2435His
LRG_766t1:c.7304G>A
LRG_766:g.71298G>A
LRG_766p1:p.Arg2435His
NC_000019.9:g.38990637G>A
NM_000540.2:c.7304G>A
P21817:p.Arg2435His
p.(Arg2435His)

Protein change:

R2435H; ARG2435HIS

Links:

PharmGKB: 1445400894PA164749136; PharmGKB: 1445400894PA449461; PharmGKB: 1445400894PA449845; PharmGKB: 1445400894PA450106; PharmGKB: 1445400894PA450434; PharmGKB: 1445400894PA451341; PharmGKB: 1445400894PA451522; UniProtKB: P21817#VAR_005606; OMIM: 180901.0003; dbSNP: rs28933396

NCBI 1000 Genomes Browser:

rs28933396

Molecular consequence:

NM_000540.3:c.7304G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.7304G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: methoxyflurane response - Toxicity
Identifiers:

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disco-interacting protein 2 homolog C [Homo sapiens]
disco-interacting protein 2 homolog C [Homo sapiens]
gi|44888818|ref|NP_055789.1|

Protein
ATP6AP2 [Pan paniscus]
ATP6AP2 [Pan paniscus]
Gene ID:100974095

Gene
UAP1L1 [Pantherophis guttatus]
UAP1L1 [Pantherophis guttatus]
Gene ID:117676614

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000925499	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Mar 24, 2021) Condition: methoxyflurane response - Toxicity Drug reported used for: Malignant Hyperthermia	germline	curation	PubMed (17) [See all records that cite these PMIDs] 12059893, 12124989, 15108991, 16163667, 16732084, 16835904, 16917943, 17081152, 17710899, 19513315, 19648156, 20681998, 21965348, 25256590, 25989378, 8220422, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000925499

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(Mar 24, 2021)
Condition: methoxyflurane response - Toxicity
Drug reported used for: Malignant Hyperthermia

germline

curation

PubMed (17)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.

Rueffert H, Olthoff D, Deutrich C, Meinecke CD, Froster UG.

Acta Anaesthesiol Scand. 2002 Jul;46(6):692-8.

PubMed [citation]

PMID:: 12059893

RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.

Robinson RL, Brooks C, Brown SL, Ellis FR, Halsall PJ, Quinnell RJ, Shaw MA, Hopkins PM.

Hum Mutat. 2002 Aug;20(2):88-97.

PubMed [citation]

PMID:: 12124989

See all PubMed Citations (17)

Details of each submission

From PharmGKB, SCV000925499.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (17)

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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 25, 2024

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