U.S. flag

An official website of the United States government

NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 28, 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:
RCV002368152.8

Allele description

NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys)

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.6811G>T (p.Gly2271Cys)
HGVS:
  • NC_000001.11:g.237638375G>T
  • NG_008799.3:g.601192G>T
  • NM_001035.3:c.6811G>TMANE SELECT
  • NP_001026.2:p.Gly2271Cys
  • LRG_402t1:c.6811G>T
  • LRG_402:g.601192G>T
  • LRG_402p1:p.Gly2271Cys
  • NC_000001.10:g.237801675G>T
  • NM_001035.2:c.6811G>T
  • NM_001035.3:c.6811G>T
Protein change:
G2271C
Links:
dbSNP: rs375371340
NCBI 1000 Genomes Browser:
rs375371340
Molecular consequence:
  • NM_001035.3:c.6811G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002664104Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Dec 28, 2021) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not 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, SCV002664104.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.G2271C variant (also known as c.6811G>T), located in coding exon 45 of the RYR2 gene, results from a G to T substitution at nucleotide position 6811. The glycine at codon 2271 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration was reported in a whole exome sequencing cohort with limited clinical details (Landstrom AP et al. Circ Arrhythm Electrophysiol, 2017 Apr;10:[ePub ahead of print]). This amino acid position is highly 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024