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NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 25, 2021
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:
RCV002493581.8

Allele description [Variation Report for NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly)]

NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly)

Genes:
LOC126806068:BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610 [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.12638A>G (p.Glu4213Gly)
HGVS:
  • NC_000001.11:g.237784350A>G
  • NG_008799.3:g.747167A>G
  • NM_001035.3:c.12638A>GMANE SELECT
  • NP_001026.2:p.Glu4213Gly
  • LRG_402t1:c.12638A>G
  • LRG_402:g.747167A>G
  • LRG_402p1:p.Glu4213Gly
  • NC_000001.10:g.237947650A>G
  • NG_008799.2:g.746949A>G
  • NM_001035.2:c.12638A>G
  • NM_001035.3:c.12638A>G
Protein change:
E4213G
Links:
dbSNP: rs1178157004
NCBI 1000 Genomes Browser:
rs1178157004
Molecular consequence:
  • NM_001035.3:c.12638A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Arrhythmogenic right ventricular dysplasia 2
Identifiers:
MedGen: C1832931
Name:
Catecholaminergic polymorphic ventricular tachycardia 1
Synonyms:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; Stress-induced polymorphic ventricular tachycardia; VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
Identifiers:
MONDO: MONDO:0011484; MedGen: C1631597; Orphanet: 3286; OMIM: 604772
Name:
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Synonyms:
Autosomal dominant cardiac arrhythmia (Kuhn)
Identifiers:
MONDO: MONDO:0020745; MedGen: C5542154; OMIM: 115000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002784477Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 25, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot 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 Fulgent Genetics, Fulgent Genetics, SCV002784477.1

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

Last Updated: Nov 3, 2024