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NM_000540.3(RYR1):c.5493G>T (p.Gly1831=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Oct 1, 2021)
Last evaluated:
May 15, 2021
Accession:
VCV000093274.8
Variation ID:
93274
Description:
single nucleotide variant
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NM_000540.3(RYR1):c.5493G>T (p.Gly1831=)

Allele ID
99181
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.2
Genomic location
19: 38486148 (GRCh38) GRCh38 UCSC
19: 38976788 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.9:g.38976788G>T
LRG_766:g.57449G>T
LRG_766t1:c.5493G>T LRG_766p1:p.Gly1831=
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:38486147:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00599 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00109
The Genome Aggregation Database (gnomAD), exomes 0.00098
The Genome Aggregation Database (gnomAD) 0.00453
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00318
The Genome Aggregation Database (gnomAD) 0.00422
Trans-Omics for Precision Medicine (TOPMed) 0.00430
Trans-Omics for Precision Medicine (TOPMed) 0.00447
1000 Genomes Project 0.00599
Links
ClinGen: CA024522
dbSNP: rs140004449
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Aug 30, 2017 RCV000079151.13
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000261375.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000266347.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000305131.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000353002.2
Benign 1 criteria provided, single submitter Nov 26, 2020 RCV000540227.5
Likely benign 1 criteria provided, single submitter May 15, 2021 RCV001719823.1
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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
4088 4102

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 07, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000111020.8
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
Central Core Disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412259.2
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: SCV000412257.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Aug 30, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000304963.2
Submitted: (Oct 12, 2018)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Minicore myopathy with external ophthalmoplegia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412258.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Malignant hyperthermia, susceptibility to, 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412260.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Nov 26, 2020)
criteria provided, single submitter
Method: clinical testing
RYR1-Related Disorders
Allele origin: germline
Invitae
Accession: SCV000659966.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 15, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000532763.5
Submitted: (Oct 01, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
(Autosomal unknown)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000194841.1
Submitted: (Sep 11, 2014)
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)
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=RYR1 - - - -

Text-mined citations for rs140004449...

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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 Dec 04, 2021