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NM_000726.4(CACNB4):c.1303-3T>C

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000128562.6
Variation ID:
128562
Description:
single nucleotide variant
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NM_000726.4(CACNB4):c.1303-3T>C

Allele ID
134011
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.3
Genomic location
2: 151839382 (GRCh38) GRCh38 UCSC
2: 152695896 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.152695896A>G
NC_000002.12:g.151839382A>G
NM_001330118.1:c.1162-3T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:151839381:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00599 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00446
1000 Genomes Project 0.00599
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00502
Trans-Omics for Precision Medicine (TOPMed) 0.00618
Exome Aggregation Consortium (ExAC) 0.00358
The Genome Aggregation Database (gnomAD), exomes 0.00380
Links
ClinGen: CA288703
dbSNP: rs143442080
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Dec 17, 2019 RCV000116534.7
Benign 1 criteria provided, single submitter Dec 2, 2020 RCV000230955.7
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000275913.1
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000354232.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Juvenile Myoclonic Epilepsy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000417235.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Aug 06, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000167527.11
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
(Mar 02, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000226044.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Episodic ataxia, type 5
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000417234.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Idiopathic generalized epilepsy
Allele origin: germline
Invitae
Accession: SCV000285609.7
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Dec 17, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001474887.1
Submitted: (Dec 30, 2020)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000150486.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CACNB4 - - - -

Text-mined citations for rs143442080...

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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