NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) AND Juvenile myoclonic epilepsy

Germline classification:: Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:: May 28, 2019
Review status:: criteria provided, conflicting classifications

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000298698.17

Allele description [Variation Report for NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)]

NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)

Gene:

CACNB4:calcium voltage-gated channel auxiliary subunit beta 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q23.3

Genomic location:

Preferred name:

NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)

Other names:

p.C104F:TGC>TTC

HGVS:

NC_000002.12:g.151880879C>A
NG_012641.1:g.223201G>T
NM_000726.4:c.311G>T
NM_000726.5:c.311G>TMANE SELECT
NM_001005746.4:c.257G>T
NM_001005747.4:c.209G>T
NM_001145798.2:c.311G>T
NM_001320722.3:c.170G>T
NM_001330113.2:c.257G>T
NM_001330114.2:c.-324G>T
NM_001330115.2:c.209G>T
NM_001330116.2:c.170G>T
NM_001330117.2:c.-248G>T
NM_001330118.1:c.170G>T
NP_000717.2:p.Cys104Phe
NP_001005746.1:p.Cys86Phe
NP_001005747.1:p.Cys70Phe
NP_001139270.1:p.Cys104Phe
NP_001307651.1:p.Cys57Phe
NP_001317042.1:p.Cys86Phe
NP_001317044.1:p.Cys70Phe
NP_001317045.1:p.Cys57Phe
NP_001317047.1:p.Cys57Phe
NC_000002.11:g.152737393C>A
NM_000726.2:c.311G>T
NM_000726.3:c.311G>T
O00305:p.Cys104Phe

Protein change:

C104F; CYS104PHE

Links:

UniProtKB: O00305#VAR_013669; OMIM: 601949.0002; dbSNP: rs1805031

NCBI 1000 Genomes Browser:

rs1805031

Molecular consequence:

NM_001330114.2:c.-324G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001330117.2:c.-248G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000726.5:c.311G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001005746.4:c.257G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001005747.4:c.209G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001145798.2:c.311G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001320722.3:c.170G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001330113.2:c.257G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001330115.2:c.209G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001330116.2:c.170G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001330118.1:c.170G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Juvenile myoclonic epilepsy (EJM)
Synonyms:: PETIT MAL, IMPULSIVE; JANZ SYNDROME
Identifiers:: MONDO: MONDO:0009696; MedGen: C0270853; Orphanet: 307; OMIM: PS254770

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000417250	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV001135982	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Uncertain significance (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000417250

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV001135982

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Uncertain significance
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.

Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH.

Am J Hum Genet. 2000 May;66(5):1531-9. Epub 2000 Apr 4.

PubMed [citation]

PMID:: 10762541
PMCID:: PMC1378014

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000417250.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mendelics, SCV001135982.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 20, 2025

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