NM_000540.2(RYR1):c.13013_13032del20 (p.Ala4338Glyfs) AND Neuromuscular disease, congenital, with uniform type 1 fiber

Clinical significance:Pathogenic (Last evaluated: Sep 17, 2013)

Review status:(0/4)0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013870.23

Allele description [Variation Report for NM_000540.2(RYR1):c.13013_13032del20 (p.Ala4338Glyfs)]

NM_000540.2(RYR1):c.13013_13032del20 (p.Ala4338Glyfs)

Gene:
RYR1:ryanodine receptor 1 (skeletal) [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.2(RYR1):c.13013_13032del20 (p.Ala4338Glyfs)
HGVS:
  • NC_000019.10:g.38565347_38565366del20
  • NG_008866.1:g.136648_136667del20
  • NM_000540.2:c.13013_13032del20
  • NP_000531.2:p.Ala4338Glyfs
  • NC_000019.9:g.39055987_39056006del20
  • NG_008866.1:g.136648_136667del
  • NM_000540.2:c.13013_13032del
  • p.(Ala4338Glyfs*238)
  • r.(?)
Links:
OMIM: 180901.0034; dbSNP: 193922856
NCBI 1000 Genomes Browser:
rs193922856
Molecular consequence:
  • NM_000540.2:c.13013_13032del20 - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Neuromuscular disease, congenital, with uniform type 1 fiber (CNMDU1)
Identifiers:
MedGen: C2674259

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000034117OMIMno assertion criteria providedPathogenic
(Sep 17, 2013)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.

Sato I, Wu S, Ibarra MC, Hayashi YK, Fujita H, Tojo M, Oh SJ, Nonaka I, Noguchi S, Nishino I.

Neurology. 2008 Jan 8;70(2):114-22. Epub 2007 May 30.

PubMed [citation]
PMID:
17538032

Details of each submission

From OMIM, SCV000034117.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an 8-year-old Japanese patient with congenital neuromuscular disease with uniform type 1 fibers (see 117000), Sato et al. (2008) identified a heterozygous 20-bp deletion beginning in exon 91 of the RYR1 gene and predicted to result in premature termination and removal of 464 residues from the C terminus of the protein.

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

Last Updated: Jun 29, 2015