NM_000540.3(RYR1):c.7304G>A (p.Arg2435His) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Feb 27, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000119699.17

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Photinia prunifolia voucher s.n. chloroplast, complete genome
Photinia prunifolia voucher s.n. chloroplast, complete genome
gi|1768907231|gb|MK920279.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000154606	Leiden Muscular Dystrophy (RYR1)	no classification provided	not provided	unknown	not provided	PubMed (5) [See all records that cite these PMIDs] 16835904, 16732084, 16917943, 19513315, 12434
SCV000852764	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 20, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002019934	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 27, 2019)	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

SCV000154606

Leiden Muscular Dystrophy (RYR1)

no classification provided

not provided

unknown

not provided

PubMed (5)
[See all records that cite these PMIDs]

SCV000852764

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 20, 2017)

germline

clinical testing

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

SCV002019934

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 27, 2019)

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	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

Galli L, Orrico A, Lorenzini S, Censini S, Falciani M, Covacci A, Tegazzin V, Sorrentino V.

Hum Mutat. 2006 Aug;27(8):830.

PubMed [citation]

PMID:: 16835904

Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.

Ibarra M CA, Wu S, Murayama K, Minami N, Ichihara Y, Kikuchi H, Noguchi S, Hayashi YK, Ochiai R, Nishino I.

Anesthesiology. 2006 Jun;104(6):1146-54.

PubMed [citation]

PMID:: 16732084

See all PubMed Citations (6)

Details of each submission

From Leiden Muscular Dystrophy (RYR1), SCV000154606.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (5)

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

From PreventionGenetics, part of Exact Sciences, SCV000852764.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002019934.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 25, 2024

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