U.S. flag

An official website of the United States government

NM_000540.3(RYR1):c.7836-1G>A AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 4, 2017
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:
RCV000678325.2

Allele description [Variation Report for NM_000540.3(RYR1):c.7836-1G>A]

NM_000540.3(RYR1):c.7836-1G>A

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.7836-1G>A
HGVS:
  • NC_000019.10:g.38502879G>A
  • NG_008866.1:g.74180G>A
  • NM_000540.3:c.7836-1G>AMANE SELECT
  • NM_001042723.2:c.7836-1G>A
  • LRG_766t1:c.7836-1G>A
  • LRG_766:g.74180G>A
  • NC_000019.9:g.38993519G>A
  • NM_000540.2:c.7836-1G>A
Links:
dbSNP: rs1568507354
NCBI 1000 Genomes Browser:
rs1568507354
Molecular consequence:
  • NM_000540.3:c.7836-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001042723.2:c.7836-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

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
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

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
SCV000804386Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 4, 2017) 		maternalprovider interpretation, clinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknown1not providednot provided1not providedclinical testing, provider interpretation

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 Geisinger Autism and Developmental Medicine Institute, Geisinger Health System, SCV000804386.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretation PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)

Description

This variant was identified in a 3 year old male with autism spectrum disorder, global developmental delay, hypotonia, and plagiocephaly. It was inherited from a healthy mother with no relevant history of developmental or neuromuscular disorder. This variant is absent from the gnomAD database and is expected to affect splicing since it alters a canonical splice site. This variant has not been reported previously in the literature, to our knowledge. A second variant of uncertain significance was identified in trans, but clinical correlation with recessive RYR1-related disorders was thought to be poor.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknownnot providednot providednot providednot providednot providednot providednot provided
2maternalunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024