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NM_001035.3(RYR2):c.322G>A (p.Gly108Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 10, 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:
RCV001775860.10

Allele description [Variation Report for NM_001035.3(RYR2):c.322G>A (p.Gly108Ser)]

NM_001035.3(RYR2):c.322G>A (p.Gly108Ser)

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.322G>A (p.Gly108Ser)
HGVS:
  • NC_000001.11:g.237369546G>A
  • NG_008799.3:g.332363G>A
  • NM_001035.3:c.322G>AMANE SELECT
  • NP_001026.2:p.Gly108Ser
  • LRG_402t1:c.322G>A
  • LRG_402:g.332363G>A
  • LRG_402p1:p.Gly108Ser
  • NC_000001.10:g.237532846G>A
  • NG_008799.2:g.332145G>A
  • NM_001035.2:c.322G>A
Protein change:
G108S
Links:
dbSNP: rs1431073529
NCBI 1000 Genomes Browser:
rs1431073529
Molecular consequence:
  • NM_001035.3:c.322G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002013111GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 10, 2019) 		germlineclinical 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 GeneDx, SCV002013111.2

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance by another clinical laboratory (ClinVar Variant ID#463594; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Located in one of the three hot-spot regions of the RYR2 gene, where the majority of pathogenic missense variants occur (Medeiros-Domingo et al., 2009)

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

Last Updated: Nov 3, 2024