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NM_000540.2(RYR1):c.4074G>A (p.Gly1358=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Mar 14, 2019)
Last evaluated:
Jan 31, 2019
Accession:
VCV000329016.2
Variation ID:
329016
Description:
single nucleotide variant
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NM_000540.2(RYR1):c.4074G>A (p.Gly1358=)

Allele ID
333320
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.2
Genomic location
19: 38473685 (GRCh38) GRCh38 UCSC
19: 38964325 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.38473685G>A
NC_000019.9:g.38964325G>A
NM_000540.2:c.4074G>A NP_000531.2:p.Gly1358= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00008
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00009
Trans-Omics for Precision Medicine (TOPMed) 0.00041
The Genome Aggregation Database (gnomAD) 0.00051
Links
ClinGen: CA065516
dbSNP: rs372178862
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Jan 31, 2019 RCV000721519.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000284547.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000337726.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000343071.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000376680.1
Likely benign 1 criteria provided, single submitter Aug 23, 2017 RCV000433314.2
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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
2625 2636

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
Malignant Hyperthermia Susceptibility
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412102.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Multiminicore Disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412104.2
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: SCV000412101.2
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: SCV000412103.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Aug 23, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000527817.4
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
(Sep 27, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000852599.1
Submitted: (Oct 12, 2018)
Evidence details
Likely benign
(Jan 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001002661.1
Submitted: (Mar 14, 2019)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Dec 17, 2019