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NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) AND Epilepsy, idiopathic generalized, susceptibility to, 9

Germline classification:
risk factor (1 submission)
Last evaluated:
May 1, 2000
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000008046.12

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:
Epilepsy, idiopathic generalized, susceptibility to, 9
Synonyms:
Epilepsy, idiopathic generalized 9
Identifiers:
MONDO: MONDO:0011892; MedGen: C2750887; Orphanet: 307; OMIM: 607682

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028251OMIM
no assertion criteria provided
risk factor
(May 1, 2000)
germlineliterature only

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

Inoue, Y., Suzuki, S., Watanabe, Y., Yagi, K., Seino, M. Non-lesional reflex epilepsy evoked by non-verbal higher cerebral activities. J. Jpn. Epilepsy Soc. 10: 1-9, 1992.

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

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 OMIM, SCV000028251.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Escayg et al. (2000) found a cys104-to-phe (C104F) missense mutation in affected members of a German family with generalized epilepsy (EIG9; 607682) and praxis-induced seizures, and in a French Canadian family with episodic ataxia type 5 (EA5; 613855). The German family had affected father and son; the French Canadian family had 5 affected individuals in 3 generations. In the German family, the affected father and son presented with an atypical but similar clinical syndrome of idiopathic generalized epilepsy with rare juvenile atypical prolonged absences and occasional generalized tonic-clonic seizures (GTCS). The proband had normal intellectual and psychomotor development. One febrile convulsion occurred at age 3 years. After age 6, he had occasional GTCS, predominantly on awakening, and, after age 12, occasional episodes of absence were described. A prolonged atypical absence occurred in the eldest son at age 14 years, while he was playing cards. At age 17, he experienced GTCS shortly after awakening. Two years later, he experienced a generalized tonic seizure while playing a complex strategic game after sleep withdrawal. He experienced occasional prolonged staring spells when lacking sleep. Both affected individuals reported that seizures were precipitated by playing complex strategic games (praxis induction), suggesting an unusual cognitive trigger of seizure initiation (Inoue et al., 1992). In the French Canadian family with the C104F mutation, the proband, after age 20 years, experienced recurrent episodes of vertigo and ataxia that lasted for several hours. Interictal examination showed spontaneous downbeat and gaze-evoked nystagmus and mild dysarthria and truncal ataxia. The proband's mother had identical episodes of vertigo and ataxia after age 30 years as well as longstanding dysarthria and imbalance. Acetazolamide prevented the attacks in both the proband and the mother, and the attacks recurred when acetazolamide was briefly discontinued.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024