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NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000254803.6
Variation ID:
254803
Description:
single nucleotide variant
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NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn)

Allele ID
249635
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.1
Genomic location
1: 201076930 (GRCh38) GRCh38 UCSC
1: 201046058 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.201046058C>T
NC_000001.11:g.201076930C>T
NG_009816.1:g.40637G>A
... more HGVS
Protein change
S606N
Other names
-
Canonical SPDI
NC_000001.11:201076929:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00479 (T)

Allele frequency
1000 Genomes Project 0.00479
The Genome Aggregation Database (gnomAD), exomes 0.00814
The Genome Aggregation Database (gnomAD) 0.01258
Trans-Omics for Precision Medicine (TOPMed) 0.00682
Exome Aggregation Consortium (ExAC) 0.00876
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00869
Links
ClinGen: CA078580
dbSNP: rs142356235
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 2 criteria provided, multiple submitters, no conflicts May 18, 2016 RCV000248889.3
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000349341.2
Benign 1 criteria provided, single submitter May 30, 2018 RCV000711138.4
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV001083987.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CACNA1S No evidence available No evidence available GRCh38
GRCh37
1137 1152

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000301805.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hypokalemic periodic paralysis 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000353085.3
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
(May 18, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000521173.4
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)
Benign
(May 30, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841466.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (2)
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Hypokalemic periodic paralysis 1
Malignant hyperthermia, susceptibility to, 5
Allele origin: germline
Invitae
Accession: SCV000653650.5
Submitted: (Jan 07, 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
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Fiszer D Anesthesiology 2015 PMID: 25658027
The role of CACNA1S in predisposition to malignant hyperthermia. Carpenter D BMC medical genetics 2009 PMID: 19825159

Text-mined citations for rs142356235...

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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 Sep 29, 2021