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NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 7, 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:
RCV000624873.2

Allele description [Variation Report for NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs)]

NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs)
HGVS:
  • NC_000019.10:g.38485770_38485777del
  • NG_008866.1:g.57071_57078del
  • NM_000540.2:c.5115_5122del
  • NM_000540.3:c.5115_5122delMANE SELECT
  • NM_001042723.2:c.5115_5122del
  • NP_000531.2:p.Leu1706fs
  • NP_001036188.1:p.Leu1706fs
  • LRG_766t1:c.5115_5122del
  • LRG_766:g.57071_57078del
  • NC_000019.9:g.38976410_38976417del
  • NM_000540.2:c.5115_5122delACTGCGCG
Protein change:
L1706fs
Links:
dbSNP: rs1248355799
NCBI 1000 Genomes Browser:
rs1248355799
Molecular consequence:
  • NM_000540.3:c.5115_5122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042723.2:c.5115_5122del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000740962Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Jul 7, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African American/Hispanicgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000740962.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African American/Hispanic1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 25, 2023