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NM_001035.3(RYR2):c.14415A>G (p.Lys4805=) AND Catecholaminergic polymorphic ventricular tachycardia

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 20, 2023
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:
RCV003996257.2

Allele description [Variation Report for NM_001035.3(RYR2):c.14415A>G (p.Lys4805=)]

NM_001035.3(RYR2):c.14415A>G (p.Lys4805=)

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.14415A>G (p.Lys4805=)
HGVS:
  • NC_000001.11:g.237809017A>G
  • NG_008799.3:g.771834A>G
  • NM_001035.3:c.14415A>GMANE SELECT
  • NP_001026.2:p.Lys4805=
  • LRG_402t1:c.14415A>G
  • LRG_402:g.771834A>G
  • LRG_402p1:p.Lys4805=
  • NC_000001.10:g.237972317A>G
  • NG_008799.2:g.771616A>G
  • NM_001035.2:c.14415A>G
  • c.14415A>G
  • p.Lys4805Lys
Links:
dbSNP: rs397516515
NCBI 1000 Genomes Browser:
rs397516515
Molecular consequence:
  • NM_001035.3:c.14415A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
4

Condition(s)

Name:
Catecholaminergic polymorphic ventricular tachycardia (CVPT)
Synonyms:
Familial polymorphic ventricular tachycardia; Catecholamine-induced polymorphic ventricular tachycardia; Polymorphic catecholergic ventricular tachycardia
Identifiers:
MONDO: MONDO:0017990; MedGen: C5574922; Orphanet: 3286; OMIM: PS604772

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004820498All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely Benign
(Nov 20, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown4not providednot provided108544not 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 All of Us Research Program, National Institutes of Health, SCV004820498.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided4not providednot providednot provided

Last Updated: Oct 26, 2024