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NM_000540.2(RYR1):c.6721C>T AND Central core disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 19, 2015
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:
RCV000263175.1

Allele description

NM_000540.2(RYR1):c.6721C>T (p.Arg2241Ter)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.2(RYR1):c.6721C>T (p.Arg2241Ter)
Other names:
RYR1, ARG2241TER (rs200563280)
HGVS:
  • NC_000019.10:g.38496466C>T
  • NG_008866.1:g.67767C>T
  • NM_000540.2:c.6721C>T
  • NP_000531.2:p.Arg2241Ter
  • LRG_766t1:c.6721C>T
  • LRG_766:g.67767C>T
  • LRG_766p1:p.Arg2241Ter
  • NC_000019.9:g.38987106C>T
  • p.Arg2241*
Protein change:
R2241*; ARG2241TER
Links:
OMIM: 180901.0039; dbSNP: rs200563280
GMAF:
0.0002(T), 200563280
NCBI 1000 Genomes Browser:
rs200563280
Allele Frequency:
0.00017(T)
Molecular consequence:
  • NM_000540.2:c.6721C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Central core disease (CCD)
Synonyms:
Myopathy, Central Core
Identifiers:
MedGen: C0751951; Orphanet: 597; OMIM: 117000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000331782EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
criteria provided, single submitter

(EGL Classification Definitions)		Pathogenic
(Feb 19, 2015) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.

Van Goor F, Yu H, Burton B, Hoffman BJ.

J Cyst Fibros. 2014 Jan;13(1):29-36. doi: 10.1016/j.jcf.2013.06.008. Epub 2013 Jul 23.

PubMed [citation]
PMID:
23891399

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000331782.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 2, 2018