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NM_001035.3(RYR2):c.32T>C (p.Ile11Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 29, 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:
RCV000621404.3

Allele description [Variation Report for NM_001035.3(RYR2):c.32T>C (p.Ile11Thr)]

NM_001035.3(RYR2):c.32T>C (p.Ile11Thr)

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.32T>C (p.Ile11Thr)
Other names:
p.I11T:ATC>ACC
HGVS:
  • NC_000001.11:g.237042553T>C
  • NG_008799.3:g.5370T>C
  • NM_001035.3:c.32T>CMANE SELECT
  • NP_001026.2:p.Ile11Thr
  • LRG_402t1:c.32T>C
  • LRG_402:g.5370T>C
  • LRG_402p1:p.Ile11Thr
  • NC_000001.10:g.237205853T>C
  • NG_008799.2:g.5152T>C
  • NM_001035.2:c.32T>C
Protein change:
I11T
Links:
dbSNP: rs794728760
NCBI 1000 Genomes Browser:
rs794728760
Molecular consequence:
  • NM_001035.3:c.32T>C - 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
SCV000737603Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 29, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000737603.5

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

Description

The p.I11T variant (also known as c.32T>C), located in coding exon 1 of the RYR2 gene, results from a T to C substitution at nucleotide position 32. The isoleucine at codon 11 is replaced by threonine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6088 samples (12176 alleles) with coverage at this position. This amino acid position is well conserved on limited sequence alignment. 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: May 1, 2024