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NM_000726.5(CACNB4):c.*1186G>T AND Juvenile myoclonic epilepsy

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000354157.5

Allele description [Variation Report for NM_000726.5(CACNB4):c.*1186G>T]

NM_000726.5(CACNB4):c.*1186G>T

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.*1186G>T
HGVS:
  • NC_000002.12:g.151837933C>A
  • NG_012641.1:g.266147G>T
  • NM_000726.5:c.*1186G>TMANE SELECT
  • NM_001005746.4:c.*1186G>T
  • NM_001005747.4:c.*1186G>T
  • NM_001145798.2:c.*1186G>T
  • NM_001320722.3:c.*1186G>T
  • NM_001330113.2:c.*1186G>T
  • NM_001330114.2:c.*1186G>T
  • NM_001330115.2:c.*1186G>T
  • NM_001330116.2:c.*1186G>T
  • NM_001330117.2:c.*1186G>T
  • NM_001330118.1:c.*1186G>T
  • NC_000002.11:g.152694447C>A
  • NM_000726.3:c.*1186G>T
Links:
dbSNP: rs72868010
NCBI 1000 Genomes Browser:
rs72868010
Molecular consequence:
  • NM_000726.5:c.*1186G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001005746.4:c.*1186G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001005747.4:c.*1186G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001145798.2:c.*1186G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001320722.3:c.*1186G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001330113.2:c.*1186G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001330114.2:c.*1186G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001330115.2:c.*1186G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001330116.2:c.*1186G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001330117.2:c.*1186G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001330118.1:c.*1186G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000417188Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000417188.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024