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NM_001127222.2(CACNA1A):c.4591-9C>G

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 30, 2021)
Last evaluated:
Mar 31, 2021
Accession:
VCV000387551.7
Variation ID:
387551
Description:
single nucleotide variant
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NM_001127222.2(CACNA1A):c.4591-9C>G

Allele ID
376238
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 13255268 (GRCh38) GRCh38 UCSC
19: 13366082 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.13255268G>C
NG_011569.1:g.256193C>G
NM_001127222.2:c.4591-9C>G MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:13255267:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00034
Exome Aggregation Consortium (ExAC) 0.00046
The Genome Aggregation Database (gnomAD) 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00012
Trans-Omics for Precision Medicine (TOPMed) 0.00006
1000 Genomes Project 0.00140
Links
ClinGen: CA9239985
dbSNP: rs16032
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Mar 28, 2017 RCV000433533.3
Benign 1 criteria provided, single submitter Nov 3, 2020 RCV000532831.4
Benign 3 criteria provided, single submitter Mar 31, 2021 RCV001700178.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CACNA1A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2001 2040

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 28, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000612546.1
Submitted: (Aug 17, 2017)
Evidence details
Benign
(Nov 03, 2020)
criteria provided, single submitter
Method: clinical testing
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2
Allele origin: germline
Invitae
Accession: SCV000656765.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 31, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000529629.5
Submitted: (Sep 30, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001927048.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001965697.1
Submitted: (Sep 21, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs16032...

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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