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NM_000540.2(RYR1):c.8616+7G>A

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Aug 19, 2021)
Last evaluated:
Nov 3, 2020
Accession:
VCV000093301.6
Variation ID:
93301
Description:
single nucleotide variant
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NM_000540.2(RYR1):c.8616+7G>A

Allele ID
99208
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.2
Genomic location
19: 38506384 (GRCh38) GRCh38 UCSC
19: 38997024 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.38506384G>A
NC_000019.9:g.38997024G>A
NM_001042723.2:c.8616+7G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:38506383:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00339 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00162
1000 Genomes Project 0.00339
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
The Genome Aggregation Database (gnomAD) 0.00019
The Genome Aggregation Database (gnomAD), exomes 0.00152
Links
ClinGen: CA024936
dbSNP: rs200023171
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 4 criteria provided, multiple submitters, no conflicts May 10, 2017 RCV000245008.3
Likely benign 1 criteria provided, single submitter Jun 17, 2019 RCV000307508.2
Likely benign 1 criteria provided, single submitter Jun 17, 2019 RCV000360991.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000364550.1
Likely benign 1 criteria provided, single submitter Jun 17, 2019 RCV000390846.2
Benign 1 criteria provided, single submitter Nov 3, 2020 RCV000554642.5
Likely benign 1 no assertion criteria provided - RCV001572811.1
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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
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Congenital Neuromuscular Disease with Uniform Type 1 Fiber
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412591.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Feb 03, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000614917.1
Submitted: (Aug 17, 2017)
Evidence details
Publications
PubMed (1)
Benign
(May 30, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000305053.2
Submitted: (Oct 12, 2018)
Evidence details
Likely benign
(Jun 17, 2019)
criteria provided, single submitter
Method: clinical testing
Central core myopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412588.3
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Jun 17, 2019)
criteria provided, single submitter
Method: clinical testing
Minicore myopathy with external ophthalmoplegia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412589.3
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Jun 17, 2019)
criteria provided, single submitter
Method: clinical testing
Malignant hyperthermia, susceptibility to, 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412590.3
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Nov 03, 2020)
criteria provided, single submitter
Method: clinical testing
RYR1-Related Disorders
Allele origin: germline
Invitae
Accession: SCV000660070.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 10, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000715412.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Jul 10, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000111048.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001797762.1
Submitted: (Aug 19, 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
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. Zullo A Human mutation 2009 PMID: 19191333
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RYR1 - - - -

Text-mined citations for rs200023171...

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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 Aug 25, 2021