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NM_000069.3(CACNA1S):c.5227-2del

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 1, 2019
Accession:
VCV000966202.2
Variation ID:
966202
Description:
1bp deletion
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NM_000069.3(CACNA1S):c.5227-2del

Allele ID
960417
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1q32.1
Genomic location
1: 201040376 (GRCh38) GRCh38 UCSC
1: 201009504 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.201009504del
NC_000001.11:g.201040376del
NG_009816.1:g.77191del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:201040375:T:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 1, 2019 RCV001240822.2
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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
1121 1136

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 01, 2019)
criteria provided, single submitter
Method: clinical testing
Hypokalemic periodic paralysis 1
Malignant hyperthermia, susceptibility to, 5
Allele origin: germline
Invitae
Accession: SCV001413798.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects an acceptor splice site in intron 42 of the CACNA1S gene. It is expected to disrupt RNA splicing and likely results … (more)

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
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Schartner V Acta neuropathologica 2017 PMID: 28012042
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing. Hunter JM Molecular genetics & genomic medicine 2015 PMID: 26247046
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547

Record last updated Oct 08, 2021