NM_001035.2(RYR2):c.1298T>C (p.Leu433Pro) AND Arrhythmogenic right ventricular dysplasia, familial, 2

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2001)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013825.17

Allele description [Variation Report for NM_001035.2(RYR2):c.1298T>C (p.Leu433Pro)]

NM_001035.2(RYR2):c.1298T>C (p.Leu433Pro)

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.1298T>C (p.Leu433Pro)
HGVS:
  • NC_000001.11:g.237454396T>C
  • NG_008799.2:g.416995T>C
  • NM_001035.2:c.1298T>C
  • NP_001026.2:p.Leu433Pro
  • NC_000001.10:g.237617696T>C
  • NG_008799.1:g.416995T>C
  • Q92736:p.Leu433Pro
Protein change:
L433P; LEU433PRO
Links:
UniProtKB: Q92736#VAR_011395; OMIM: 180902.0006; dbSNP: 121918602
NCBI 1000 Genomes Browser:
rs121918602
Molecular consequence:
  • NM_001035.2:c.1298T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Arrhythmogenic right ventricular dysplasia, familial, 2 (ARVD2)
Synonyms:
Arrhythmogenic right ventricular dysplasia, type 2; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2
Identifiers:
MedGen: C1832931; OMIM: 600996

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000034072OMIMno assertion criteria providedPathogenic
(Feb 1, 2001)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).

Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A.

Hum Mol Genet. 2001 Feb 1;10(3):189-94.

PubMed [citation]
PMID:
11159936

Details of each submission

From OMIM, SCV000034072.1

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

Description

In a 3-generation family with arrhythmogenic right ventricular dysplasia (ARVD2; 600996), Tiso et al. (2001) detected a T-to-C transition at nucleotide 1298 in exon 15 of the RYR2 gene, resulting in a leu433-to-pro (L433P) missense mutation in the cytosolic portion of the protein.

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

Last Updated: Sep 27, 2017