NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) AND Malignant hyperthermia of anesthesia

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000325643.13

Allele description [Variation Report for NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)]

NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)

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.7025A>G (p.Asn2342Ser)

Other names:

NM_000540.3(RYR1):c.7025A>G

HGVS:

NC_000019.10:g.38499241A>G
NG_008866.1:g.70542A>G
NM_000540.3:c.7025A>GMANE SELECT
NM_001042723.2:c.7025A>G
NP_000531.2:p.Asn2342Ser
NP_000531.2:p.Asn2342Ser
NP_001036188.1:p.Asn2342Ser
LRG_766t1:c.7025A>G
LRG_766:g.70542A>G
LRG_766p1:p.Asn2342Ser
NC_000019.9:g.38989881A>G
NM_000540.2:c.7025A>G
P21817:p.Asn2342Ser
p.(Asn2342Ser)

Protein change:

N2342S

Links:

UniProtKB: P21817#VAR_045716; dbSNP: rs147213895

NCBI 1000 Genomes Browser:

rs147213895

Molecular consequence:

NM_000540.3:c.7025A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.7025A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Malignant hyperthermia of anesthesia
Synonyms:: Hyperthermia of anesthesia; Anesthesic-triggered malignant hyperthermia
Identifiers:: MONDO: MONDO:0018493; MedGen: C0024591; Human Phenotype Ontology: HP:0034733

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000412390	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016) Condition: Malignant Hyperthermia Susceptibility	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 15221887, 19825159, 23826317 ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000412390

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)
Condition: Malignant Hyperthermia Susceptibility

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia.

Marchant CL, Ellis FR, Halsall PJ, Hopkins PM, Robinson RL.

Muscle Nerve. 2004 Jul;30(1):114-7.

PubMed [citation]

PMID:: 15221887

The role of CACNA1S in predisposition to malignant hyperthermia.

Carpenter D, Ringrose C, Leo V, Morris A, Robinson RL, Halsall PJ, Hopkins PM, Shaw MA.

BMC Med Genet. 2009 Oct 13;10:104. doi: 10.1186/1471-2350-10-104.

PubMed [citation]

PMID:: 19825159
PMCID:: PMC2770053

See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000412390.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: Nov 3, 2024

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