NM_000540.3(RYR1):c.7864C>G (p.Leu2622Val) AND Malignant hyperthermia, susceptibility to, 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 4, 2023
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:: RCV004009762.2

Allele description [Variation Report for NM_000540.3(RYR1):c.7864C>G (p.Leu2622Val)]

NM_000540.3(RYR1):c.7864C>G (p.Leu2622Val)

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.7864C>G (p.Leu2622Val)

HGVS:

NC_000019.10:g.38502908C>G
NG_008866.1:g.74209C>G
NM_000540.3:c.7864C>GMANE SELECT
NM_001042723.2:c.7864C>G
NP_000531.2:p.Leu2622Val
NP_000531.2:p.Leu2622Val
NP_001036188.1:p.Leu2622Val
LRG_766t1:c.7864C>G
LRG_766:g.74209C>G
LRG_766p1:p.Leu2622Val
NC_000019.9:g.38993548C>G
NM_000540.2:c.7864C>G

Protein change:

L2622V

Molecular consequence:

NM_000540.3:c.7864C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.7864C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Malignant hyperthermia, susceptibility to, 1 (MHS1)
Synonyms:: Anesthesia related hyperthermia; Malignant hyperpyrexia; Fulminating hyperpyrexia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007783; MedGen: C2930980; Orphanet: 423; OMIM: 145600

Recent activity

Clear Turn Off Turn On

703221[uid] (1)
Taxonomy
Homo sapiens ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1...
Homo sapiens ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila), mRNA (cDNA clone MGC:60258 IMAGE:5742498), complete cds
gi|30354163|gb|BC051877.1|

Nucleotide
Escherichia coli strain RWL2, whole genome shotgun sequencing project
Escherichia coli strain RWL2, whole genome shotgun sequencing project
gi|2452228713|gb|JARDWY000000000.1| Y010000000

Nucleotide
Serratia marcescens strain IPG79, whole genome shotgun sequencing project
Serratia marcescens strain IPG79, whole genome shotgun sequencing project
gi|2444031133|gb|JAQOMC000000000.1| C010000000

Nucleotide
Proteus vulgaris strain IPG84, whole genome shotgun sequencing project
Proteus vulgaris strain IPG84, whole genome shotgun sequencing project
gi|2444031089|gb|JAQMZO000000000.1| O010000000

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004824095	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Mar 4, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004824095

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Mar 4, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	108544	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV004824095.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine