NM_000540.3(RYR1):c.14438A>G (p.His4813Arg) AND Central core myopathy

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003484986.1

Allele description [Variation Report for NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)]

NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)

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.14438A>G (p.His4813Arg)

HGVS:

NC_000019.10:g.38580055A>G
NG_008866.1:g.151356A>G
NG_147983.1:g.605A>G
NM_000540.3:c.14438A>GMANE SELECT
NM_001042723.2:c.14423A>G
NP_000531.2:p.His4813Arg
NP_000531.2:p.His4813Arg
NP_001036188.1:p.His4808Arg
LRG_766t1:c.14438A>G
LRG_766:g.151356A>G
LRG_766p1:p.His4813Arg
NC_000019.9:g.39070695A>G
NM_000540.2:c.14438A>G

Protein change:

H4808R

Molecular consequence:

NM_000540.3:c.14438A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.14423A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Central core myopathy (CMYO1A)
Synonyms:: Central core disease; Central core disease of muscle; Muscle core disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007294; MedGen: C0751951; Orphanet: 597; OMIM: 117000

Recent activity

Clear Turn Off Turn On

Embryonic Anterior Neural Plate Cells: Experimental biol rep 2
Embryonic Anterior Neural Plate Cells: Experimental biol rep 2

biosample

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
SCV004232370	Institute of Human Genetics, University of Wuerzburg	no assertion criteria provided	Likely pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004232370

Institute of Human Genetics, University of Wuerzburg

no assertion criteria provided

Likely pathogenic

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV004232370.1

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

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

Last Updated: Jul 29, 2024

ClinVar

Relating variation to medicine