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NM_000540.3(RYR1):c.2427_2446dup (p.Pro816fs) AND RYR1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 24, 2021
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:
RCV001385699.6

Allele description [Variation Report for NM_000540.3(RYR1):c.2427_2446dup (p.Pro816fs)]

NM_000540.3(RYR1):c.2427_2446dup (p.Pro816fs)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.2427_2446dup (p.Pro816fs)
HGVS:
  • NC_000019.10:g.38460441_38460460dup
  • NG_008866.1:g.31742_31761dup
  • NM_000540.3:c.2427_2446dupMANE SELECT
  • NM_001042723.2:c.2427_2446dup
  • NP_000531.2:p.Pro816fs
  • NP_001036188.1:p.Pro816fs
  • LRG_766:g.31742_31761dup
  • NC_000019.9:g.38951074_38951075insTGCTCCATGCCATGAGGCTG
  • NC_000019.9:g.38951081_38951100dup
Protein change:
P816fs
Links:
dbSNP: rs1460246826
NCBI 1000 Genomes Browser:
rs1460246826
Molecular consequence:
  • NM_000540.3:c.2427_2446dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042723.2:c.2427_2446dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
RYR1-related disorder
Synonyms:
RYR1-Related Disorders; RYR1-related condition
Identifiers:
MedGen: CN239331

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001585658Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 24, 2021) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.

Witting N, Werlauff U, Duno M, Vissing J.

Neurol Genet. 2017 Apr;3(2):e140. doi: 10.1212/NXG.0000000000000140.

PubMed [citation]
PMID:
28357410
PMCID:
PMC5362145

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN.

Hum Mutat. 2010 Jul;31(7):E1544-50. doi: 10.1002/humu.21278.

PubMed [citation]
PMID:
20583297
See all PubMed Citations (6)

Details of each submission

From Invitae, SCV001585658.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with autosomal recessive congenital myopathy (PMID: 28357410). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro816Hisfs*75) in the RYR1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RYR1 are known to be pathogenic (PMID: 20583297, 20839240, 23919265, 28818389).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2024