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NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys) AND Arrhythmogenic right ventricular dysplasia 2

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001542518.10

Allele description [Variation Report for NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys)]

NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys)

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.9742C>T (p.Arg3248Cys)
HGVS:
  • NC_000001.11:g.237707110C>T
  • NG_008799.3:g.669927C>T
  • NM_001035.3:c.9742C>TMANE SELECT
  • NP_001026.2:p.Arg3248Cys
  • LRG_402t1:c.9742C>T
  • LRG_402:g.669927C>T
  • LRG_402p1:p.Arg3248Cys
  • NC_000001.10:g.237870410C>T
  • NG_008799.2:g.669709C>T
  • NM_001035.2:c.9742C>T
Protein change:
R3248C
Links:
dbSNP: rs1290534109
NCBI 1000 Genomes Browser:
rs1290534109
Molecular consequence:
  • NM_001035.3:c.9742C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Arrhythmogenic right ventricular dysplasia 2
Identifiers:
MedGen: C1832931

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001760028Genomics England Pilot Project, Genomics England
no assertion criteria provided

(ACGS Guidelines, 2016)		Likely pathogenicgermlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001760028.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024