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NM_000540.2(RYR1):c.9723C>T (p.Pro3241=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 18, 2020
Accession:
VCV000167622.4
Variation ID:
167622
Description:
single nucleotide variant
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NM_000540.2(RYR1):c.9723C>T (p.Pro3241=)

Allele ID
178031
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.2
Genomic location
19: 38517396 (GRCh38) GRCh38 UCSC
19: 39008036 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.38517396C>T
NC_000019.9:g.39008036C>T
NM_000540.2:c.9723C>T NP_000531.2:p.Pro3241= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:38517395:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00011
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD), exomes 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA025001
dbSNP: rs199828145
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 10, 2014 RCV000153870.5
Benign 1 criteria provided, single submitter Feb 18, 2020 RCV001078640.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RYR1 No evidence available No evidence available GRCh38
GRCh37
3981 3995

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Feb 18, 2020)
criteria provided, single submitter
Method: clinical testing
RYR1-Related Disorders
Allele origin: germline
Invitae
Accession: SCV001092220.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Apr 10, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000203464.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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=RYR1 - - - -

Text-mined citations for rs199828145...

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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 Jun 14, 2021