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NM_000540.3(RYR1):c.1542G>A (p.Trp514Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2019
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:
RCV001092335.15

Allele description

NM_000540.3(RYR1):c.1542G>A (p.Trp514Ter)

Genes:
LOC129391106:MPRA-validated peak3472 silencer [Gene]
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.1542G>A (p.Trp514Ter)
HGVS:
  • NC_000019.10:g.38455336G>A
  • NG_008866.1:g.26637G>A
  • NM_000540.3:c.1542G>AMANE SELECT
  • NM_001042723.2:c.1542G>A
  • NP_000531.2:p.Trp514Ter
  • NP_001036188.1:p.Trp514Ter
  • LRG_766:g.26637G>A
  • NC_000019.9:g.38945976G>A
Protein change:
W514*
Links:
dbSNP: rs1967312937
NCBI 1000 Genomes Browser:
rs1967312937
Molecular consequence:
  • NM_000540.3:c.1542G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001042723.2:c.1542G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001248779CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Jan 1, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001248779.19

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Mar 10, 2024