U.S. flag

An official website of the United States government

NM_000540.3(RYR1):c.9760G>A (p.Gly3254Arg) AND Central core myopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 2, 2022
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:
RCV002291201.2

Allele description [Variation Report for NM_000540.3(RYR1):c.9760G>A (p.Gly3254Arg)]

NM_000540.3(RYR1):c.9760G>A (p.Gly3254Arg)

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.9760G>A (p.Gly3254Arg)
HGVS:
  • NC_000019.10:g.38517433G>A
  • NG_008866.1:g.88734G>A
  • NM_000540.3:c.9760G>AMANE SELECT
  • NM_001042723.2:c.9760G>A
  • NP_000531.2:p.Gly3254Arg
  • NP_000531.2:p.Gly3254Arg
  • NP_001036188.1:p.Gly3254Arg
  • LRG_766t1:c.9760G>A
  • LRG_766:g.88734G>A
  • LRG_766p1:p.Gly3254Arg
  • NC_000019.9:g.39008073G>A
  • NM_000540.2:c.9760G>A
Protein change:
G3254R
Molecular consequence:
  • NM_000540.3:c.9760G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.9760G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002583489Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
no assertion criteria provided
Uncertain significance
(Jun 2, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Genetics Laboratory, University Hospital Schleswig-Holstein, SCV002583489.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2024