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NM_000726.4(CACNB4):c.54C>A (p.Pro18=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 5, 2020
Accession:
VCV000381095.3
Variation ID:
381095
Description:
single nucleotide variant
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NM_000726.4(CACNB4):c.54C>A (p.Pro18=)

Allele ID
365772
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.3
Genomic location
2: 152098958 (GRCh38) GRCh38 UCSC
2: 152955472 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.152955472G>T
NC_000002.12:g.152098958G>T
NM_001145798.2:c.54C>A NP_001139270.1:p.Pro18= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:152098957:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00008
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00026
1000 Genomes Project 0.00060
Exome Aggregation Consortium (ExAC) 0.00044
Trans-Omics for Precision Medicine (TOPMed) 0.00017
Links
ClinGen: CA1912789
dbSNP: rs373222155
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 2, 2015 RCV000438212.2
Benign 1 criteria provided, single submitter Feb 15, 2019 RCV000991331.1
Likely benign 1 criteria provided, single submitter Mar 5, 2020 RCV001481746.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CACNB4 - - GRCh38
GRCh37
277 296

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 02, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000520163.4
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
(Feb 15, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000612629.2
Submitted: (Sep 25, 2019)
Evidence details
Likely benign
(Mar 05, 2020)
criteria provided, single submitter
Method: clinical testing
Idiopathic generalized epilepsy
Allele origin: germline
Invitae
Accession: SCV001686094.1
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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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 rs373222155...

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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 Jun 14, 2021