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NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile) AND Catecholaminergic polymorphic ventricular tachycardia 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 19, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000157470.1

Allele description [Variation Report for NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile)]

NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile)

Gene:
RYR2:ryanodine receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile)
HGVS:
  • NC_000001.11:g.237830600C>T
  • NG_008799.3:g.793417C>T
  • NM_001035.3:c.14726C>TMANE SELECT
  • NP_001026.2:p.Thr4909Ile
  • LRG_402t1:c.14726C>T
  • LRG_402:g.793417C>T
  • LRG_402p1:p.Thr4909Ile
  • NC_000001.10:g.237993900C>T
  • NG_008799.2:g.793199C>T
  • NM_001035.2:c.14726C>T
Protein change:
T4909I
Links:
dbSNP: rs730880201
NCBI 1000 Genomes Browser:
rs730880201
Molecular consequence:
  • NM_001035.3:c.14726C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Catecholaminergic polymorphic ventricular tachycardia 1
Synonyms:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; Stress-induced polymorphic ventricular tachycardia; VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
Identifiers:
MONDO: MONDO:0011484; MedGen: C1631597; Orphanet: 3286; OMIM: 604772

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000207215Blueprint Genetics
no assertion criteria provided
Likely pathogenic
(Nov 19, 2014) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000207215.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 6, 2024