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NM_001035.3(RYR2):c.535G>A (p.Asp179Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 2, 2016
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:
RCV000182661.2

Allele description [Variation Report for NM_001035.3(RYR2):c.535G>A (p.Asp179Asn)]

NM_001035.3(RYR2):c.535G>A (p.Asp179Asn)

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.535G>A (p.Asp179Asn)
Other names:
p.D179N:GAT>AAT
HGVS:
  • NC_000001.11:g.237377394G>A
  • NG_008799.2:g.339993G>A
  • NG_008799.3:g.340211G>A
  • NM_001035.3:c.535G>AMANE SELECT
  • NP_001026.2:p.Asp179Asn
  • LRG_402t1:c.535G>A
  • LRG_402:g.340211G>A
  • LRG_402p1:p.Asp179Asn
  • NC_000001.10:g.237540694G>A
  • NM_001035.2:c.535G>A
Protein change:
D179N
Links:
dbSNP: rs794728709
NCBI 1000 Genomes Browser:
rs794728709
Molecular consequence:
  • NM_001035.3:c.535G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000235039GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 2, 2016) 		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, SCV000235039.6

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

Description

A novel variant of uncertain significance has been identified in the RYR2 gene. The D179N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. D179N is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species and is 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). Consequently, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, additional evidence such as segregation and functional data is necessary to fully assess the pathogenicity of this variant.

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

Last Updated: Nov 5, 2022