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NM_000540.3(RYR1):c.5509_5510del (p.Gln1837fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 22, 2018
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:
RCV000627507.1

Allele description [Variation Report for NM_000540.3(RYR1):c.5509_5510del (p.Gln1837fs)]

NM_000540.3(RYR1):c.5509_5510del (p.Gln1837fs)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.5509_5510del (p.Gln1837fs)
HGVS:
  • NC_000019.10:g.38486164_38486165del
  • NG_008866.1:g.57465_57466del
  • NM_000540.3:c.5509_5510delMANE SELECT
  • NM_001042723.2:c.5509_5510del
  • NP_000531.2:p.Gln1837fs
  • NP_001036188.1:p.Gln1837fs
  • LRG_766:g.57465_57466del
  • NC_000019.9:g.38976804_38976805del
  • NM_000540.2:c.5509_5510delCA
Protein change:
Q1837fs
Links:
dbSNP: rs1555779450
NCBI 1000 Genomes Browser:
rs1555779450
Molecular consequence:
  • NM_000540.3:c.5509_5510del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042723.2:c.5509_5510del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000748507GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Mar 22, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000748507.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.5509_5510delCA variant in the RYR1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5509_5510delCA variant causes a frameshift starting with codon Glutamine 1837, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Gln1837ValfsX20. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5509_5510delCA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.5509_5510delCA as a likely pathogenic variant.

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

Last Updated: Nov 5, 2022