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NM_001035.3(RYR2):c.8437-1390C>T AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 16, 2021
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:
RCV002266674.1

Allele description [Variation Report for NM_001035.3(RYR2):c.8437-1390C>T]

NM_001035.3(RYR2):c.8437-1390C>T

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.8437-1390C>T
HGVS:
  • NC_000001.11:g.237665122C>T
  • NG_008799.3:g.627939C>T
  • NM_001035.3:c.8437-1390C>TMANE SELECT
  • LRG_402t1:c.8437-1390C>T
  • LRG_402:g.627939C>T
  • NC_000001.10:g.237828422C>T
Links:
dbSNP: rs1402357546
NCBI 1000 Genomes Browser:
rs1402357546
Molecular consequence:
  • NM_001035.3:c.8437-1390C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Arrhythmogenic right ventricular dysplasia 2
Identifiers:
MedGen: C1832931
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
Name:
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Synonyms:
Autosomal dominant cardiac arrhythmia (Kuhn)
Identifiers:
MONDO: MONDO:0020745; MedGen: C5542154; OMIM: 115000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002548730New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jul 16, 2021) 		de novoclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novounknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002548730.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novounknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 6, 2024