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NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs) AND Catecholaminergic polymorphic ventricular tachycardia 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 3, 2022
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:
RCV001842247.1

Allele description [Variation Report for NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs)]

NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs)

Gene:
RYR2:ryanodine receptor 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs)
HGVS:
  • NC_000001.11:g.237441344_237441348del
  • NG_008799.3:g.404161_404165del
  • NM_001035.3:c.1031_1035delMANE SELECT
  • NP_001026.2:p.Lys344fs
  • LRG_402t1:c.1031_1035del
  • LRG_402:g.404161_404165del
  • LRG_402p1:p.Lys344fs
  • NC_000001.10:g.237604644_237604648del
Protein change:
K344fs
Links:
dbSNP: rs2150146622
NCBI 1000 Genomes Browser:
rs2150146622
Molecular consequence:
  • NM_001035.3:c.1031_1035del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002102425Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Feb 3, 2022)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV002102425.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Criteria applied: PVS1, PM2_SUP

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

Last Updated: Apr 6, 2024