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NM_000069.3(CACNA1S):c.2748C>T (p.His916=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Aug 31, 2018)
Last evaluated:
Apr 27, 2018
Accession:
VCV000254822.1
Variation ID:
254822
Description:
single nucleotide variant
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NM_000069.3(CACNA1S):c.2748C>T (p.His916=)

Allele ID
249618
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.1
Genomic location
1: 201065943 (GRCh38) GRCh38 UCSC
1: 201035071 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.201035071G>A
NC_000001.11:g.201065943G>A
NM_000069.3:c.2748C>T NP_000060.2:p.His916= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.05391 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.03827
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01238
Exome Aggregation Consortium (ExAC) 0.04208
The Genome Aggregation Database (gnomAD) 0.02534
Trans-Omics for Precision Medicine (TOPMed) 0.02865
1000 Genomes Project 0.05391
Links
dbSNP: rs2297902
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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 Mar 18, 2016 RCV000248838.2
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000298607.1
Benign 1 criteria provided, single submitter Aug 18, 2017 RCV000557416.1
Benign 1 criteria provided, single submitter Apr 27, 2018 RCV000711141.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CACNA1S No evidence available No evidence available GRCh38
GRCh37
574 587

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics
Accession: SCV000301825.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hypokalemic Periodic Paralysis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000353027.2
Submitted: (Oct 18, 2016)
Evidence details
Publications
PubMed (1)
Benign
(Aug 18, 2017)
criteria provided, single submitter
Method: clinical testing
Hypokalemic periodic paralysis 1
Malignant hyperthermia susceptibility 5
Allele origin: germline
Invitae
Accession: SCV000653679.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Mar 18, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000519966.4
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
(Apr 27, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841469.1
Submitted: (Aug 31, 2018)
Evidence details

Citations for this variant

Title Author Journal Year Link
A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance. Li FF Journal of molecular neuroscience : MN 2012 PMID: 21845430

Record last updated Aug 30, 2019