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NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(4);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Sep 9, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000043721.11
Variation ID:
43721
Description:
single nucleotide variant
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NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)

Allele ID
52890
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q43
Genomic location
1: 237947717 (GRCh37) GRCh37 UCSC
1: 237784417 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_402:g.747234C>T
LRG_402t1:c.12705C>T LRG_402p1:p.Phe4235=
NC_000001.10:g.237947717C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:237784416:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00025
1000 Genomes Project 0.00040
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00033
The Genome Aggregation Database (gnomAD), exomes 0.00036
Exome Aggregation Consortium (ExAC) 0.00031
Trans-Omics for Precision Medicine (TOPMed) 0.00039
Links
ClinGen: CA007686
dbSNP: rs373606009
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Oct 1, 2018 RCV000036673.5
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Oct 16, 2018 RCV000777965.2
Likely benign 1 criteria provided, single submitter Jul 10, 2017 RCV000620335.1
Uncertain significance 2 criteria provided, single submitter Mar 16, 2015 RCV000724635.4
Likely benign 1 criteria provided, single submitter Nov 21, 2020 RCV001081670.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RYR2 No evidence available No evidence available GRCh38
GRCh37
4274 4337

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 01, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000920169.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: RYR2 c.12705C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these … (more)
Likely benign
(Jan 10, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000060328.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Phe4235Phe in exon 90 of RYR2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue … (more)
Likely benign
(Dec 11, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Accession: SCV001333071.1
Submitted: (Mar 03, 2020)
Evidence details
Likely benign
(Jul 10, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736861.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Likely benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
Catecholaminergic polymorphic ventricular tachycardia
Allele origin: germline
Invitae
Accession: SCV000760726.4
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Mar 16, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000233207.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Oct 16, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV000914066.1
Submitted: (Nov 06, 2018)
Evidence details
Benign
(Mar 03, 2015)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001842849.1
Submitted: (Sep 09, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RYR2 - - - -

Text-mined citations for rs373606009...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 10, 2021