NM_001035.2(RYR2):c.12312C>G (p.Asn4104Lys)

NM_001035.2(RYR2):c.12312C>G (p.Asn4104Lys)

Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
  • Chr1:237784024 (on Assembly GRCh38)
  • Chr1:237947324 (on Assembly GRCh37)
Protein change:
N4104K
HGVS:
  • NG_008799.2:g.746623C>G
  • NM_001035.2:c.12312C>G
  • NC_000001.11:g.237784024C>G (GRCh38)
  • NC_000001.10:g.237947324C>G (GRCh37)
  • NP_001026.2:p.Asn4104Lys
  • NG_008799.1:g.746623C>G
Links:
NCBI 1000 Genomes Browser:
rs121918599
Molecular consequence:
NM_001035.2:c.12312C>G: missense variant [Sequence Ontology SO:0001583]

Clinical significance

NM_001035.2(RYR2):c.12312C>G (p.Asn4104Lys)

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Pathogenic
(Jun 2, 2011)
classified by single submitter
(literature only)
literature onlygermlinePubMed (1)
OMIM
(Dec 30, 2010)
SCV000034069

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

Priori et al. (2001) identified an asn4104-to-lys (N4104K) mutation of the RYR2 gene in a 14-year-old boy with stress-induced polymorphic ventricular tachycardia (CPVT1; 604772). The boy had been referred because of frequent episodes of loss of consciousness during exercise, beginning at age 7 years. There was no family history of sudden cardiac death and/or syncopal episodes. The parents were asymptomatic, with normal hearts and no exercise-induced arrhythmias. The patient was treated with atenolol, which prevented recurrence of syncope and ventricular arrhythmias during 9 years of follow-up.

Last Updated: Jan 29, 2015

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