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NM_001035.3(RYR2):c.3230T>G (p.Val1077Gly) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 26, 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:
RCV002324743.2

Allele description [Variation Report for NM_001035.3(RYR2):c.3230T>G (p.Val1077Gly)]

NM_001035.3(RYR2):c.3230T>G (p.Val1077Gly)

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.3230T>G (p.Val1077Gly)
HGVS:
  • NC_000001.11:g.237566582T>G
  • NG_008799.3:g.529399T>G
  • NM_001035.3:c.3230T>GMANE SELECT
  • NP_001026.2:p.Val1077Gly
  • LRG_402t1:c.3230T>G
  • LRG_402:g.529399T>G
  • LRG_402p1:p.Val1077Gly
  • NC_000001.10:g.237729882T>G
  • NM_001035.2:c.3230T>G
Protein change:
V1077G
Molecular consequence:
  • NM_001035.3:c.3230T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002609508Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 26, 2021) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.

Landstrom AP, Dailey-Schwartz AL, Rosenfeld JA, Yang Y, McLean MJ, Miyake CY, Valdes SO, Fan Y, Allen HD, Penny DJ, Kim JJ.

Circ Arrhythm Electrophysiol. 2017 Apr;10(4). doi:pii: e004742. 10.1161/CIRCEP.116.004742.

PubMed [citation]
PMID:
28404607
PMCID:
PMC5391872

Details of each submission

From Ambry Genetics, SCV002609508.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.V1077G variant (also known as c.3230T>G), located in coding exon 28 of the RYR2 gene, results from a T to G substitution at nucleotide position 3230. The valine at codon 1077 is replaced by glycine, an amino acid with dissimilar properties. This variant has been detected in an exome sequencing cohort; however, details were limited (Landstrom AP et al. Circ Arrhythm Electrophysiol, 2017 Apr;10). This amino acid position is well conserved in available 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: Sep 29, 2024