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NM_000540.3(RYR1):c.10941C>G (p.His3647Gln)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Sep 30, 2021)
Last evaluated:
Mar 2, 2021
Accession:
VCV000093244.6
Variation ID:
93244
Description:
single nucleotide variant
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NM_000540.3(RYR1):c.10941C>G (p.His3647Gln)

Allele ID
99151
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.2
Genomic location
19: 38528602 (GRCh38) GRCh38 UCSC
19: 39019242 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000540.2:c.10941C>G NP_000531.2:p.His3647Gln missense
NC_000019.9:g.39019242C>G
NC_000019.10:g.38528602C>G
... more HGVS
Protein change
H3642Q
Other names
-
Canonical SPDI
NC_000019.10:38528601:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00339 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00097
The Genome Aggregation Database (gnomAD) 0.00319
Trans-Omics for Precision Medicine (TOPMed) 0.00340
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00423
The Genome Aggregation Database (gnomAD), exomes 0.00077
1000 Genomes Project 0.00339
Links
ClinGen: CA023875
dbSNP: rs114351116
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Apr 2, 2018 RCV000079120.8
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000299239.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000265131.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000357591.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000356593.2
Benign 1 criteria provided, single submitter Oct 9, 2020 RCV000538736.4
Benign 1 criteria provided, single submitter Mar 2, 2021 RCV001719822.1
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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
4076 4090

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 31, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000110989.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Multiminicore Disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412777.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Malignant Hyperthermia Susceptibility
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412780.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Central Core Disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412778.2
Submitted: (Oct 18, 2016)
Evidence details
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: SCV000412779.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Apr 02, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000304768.2
Submitted: (Oct 12, 2018)
Evidence details
Benign
(Oct 09, 2020)
criteria provided, single submitter
Method: clinical testing
RYR1-Related Disorders
Allele origin: germline
Invitae
Accession: SCV000659757.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 02, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000726244.2
Submitted: (Sep 30, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 30325262)

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 rs114351116...

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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 Nov 20, 2021