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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 15, 2019
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:
RCV002447282.9

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:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002677606Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(May 15, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002677606.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.E4213G variant (also known as c.12638A>G), located in coding exon 90 of the RYR2 gene, results from an A to G substitution at nucleotide position 12638. The glutamic acid at codon 4213 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, glycine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024