NM_001035.2(RYR2):c.12602A>G (p.Gln4201Arg) AND Ventricular tachycardia, catecholaminergic polymorphic, 1

Clinical significance:Pathogenic (Last evaluated: Feb 16, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000013828.17

Allele description [Variation Report for NM_001035.2(RYR2):c.12602A>G (p.Gln4201Arg)]

NM_001035.2(RYR2):c.12602A>G (p.Gln4201Arg)

Gene:
RYR2:ryanodine receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_001035.2(RYR2):c.12602A>G (p.Gln4201Arg)
HGVS:
  • NC_000001.11:g.237784314A>G
  • NG_008799.2:g.746913A>G
  • NM_001035.2:c.12602A>G
  • NP_001026.2:p.Gln4201Arg
  • NC_000001.10:g.237947614A>G
  • NG_008799.1:g.746913A>G
  • Q92736:p.Gln4201Arg
Protein change:
Q4201R; GLN4201ARG
Links:
UniProtKB: Q92736#VAR_011401; OMIM: 180902.0009; dbSNP: 121918605
NCBI 1000 Genomes Browser:
rs121918605
Molecular consequence:
  • NM_001035.2:c.12602A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ventricular tachycardia, catecholaminergic polymorphic, 1 (CPVT1)
Synonyms:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
Identifiers:
MedGen: CN033270; Orphanet: 3286; OMIM: 604772
Age of onset:
Childhood
Prevalence:
1-5 / 10 000 3286

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000034075OMIMno assertion criteria providedPathogenic
(Jan 30, 2001)
germlineliterature only

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

SCV000057856GeneReviewsno assertion criteria providedpathologic
(Feb 16, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedliterature only
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.

Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B, Donarum EA, Marino M, Tiso N, Viitasalo M, Toivonen L, Stephan DA, Kontula K.

Circulation. 2001 Jan 30;103(4):485-90.

PubMed [citation]
PMID:
11157710

Details of each submission

From OMIM, SCV000034075.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Laitinen et al. (2001) reported a gln4201-to-arg (Q4201R) mutation in the RYR2 gene in a Finnish family with a history of stress-induced ventricular tachycardia (CPVT1; 604772) and sudden unexplained death. This mutation was located in the C-terminal part of the RYR2 receptor, which contains several membrane-spanning domains.

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

From GeneReviews, SCV000057856.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Dec 6, 2016