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NM_001127222.2(CACNA1A):c.1914-4G>A

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 23, 2021)
Last evaluated:
Nov 22, 2020
Accession:
VCV000257509.9
Variation ID:
257509
Description:
single nucleotide variant
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NM_001127222.2(CACNA1A):c.1914-4G>A

Allele ID
256787
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 13307858 (GRCh38) GRCh38 UCSC
19: 13418672 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001127221.1:c.1917-4G>A
NC_000019.9:g.13418672C>T
NC_000019.10:g.13307858C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:13307857:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00104
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00099
The Genome Aggregation Database (gnomAD) 0.00045
Exome Aggregation Consortium (ExAC) 0.00121
The Genome Aggregation Database (gnomAD), exomes 0.00161
Links
ClinGen: CA9240683
dbSNP: rs191026552
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 Sep 3, 2020 RCV000244311.5
Benign 1 criteria provided, single submitter Nov 22, 2020 RCV000653358.4
Benign 1 criteria provided, single submitter Mar 2, 2019 RCV000717250.1
Benign 1 criteria provided, single submitter Jun 12, 2018 RCV001697597.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CACNA1A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1999 2037

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: SCV000306690.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Mar 02, 2019)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000848099.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)
Benign
(Nov 22, 2020)
criteria provided, single submitter
Method: clinical testing
Epileptic encephalopathy, early infantile, 42
Episodic ataxia type 2
Allele origin: germline
Invitae
Accession: SCV000775237.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 03, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001475633.2
Submitted: (Dec 30, 2020)
Evidence details
Benign
(Jun 12, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000525566.5
Submitted: (Sep 23, 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 rs191026552...

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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 Oct 30, 2021