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NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser) AND Epilepsy, idiopathic generalized, susceptibility to, 12

Germline classification:
risk factor (1 submission)
Last evaluated:
Nov 1, 2012
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:
RCV000082869.6

Allele description [Variation Report for NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser)]

NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser)

Gene:
SLC2A1:solute carrier family 2 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser)
HGVS:
  • NC_000001.11:g.42927651T>C
  • NG_008232.1:g.36526A>G
  • NM_006516.4:c.1232A>GMANE SELECT
  • NP_006507.2:p.Asn411Ser
  • LRG_1132:g.36526A>G
  • NC_000001.10:g.43393322T>C
  • NM_006516.2:c.1232A>G
  • P11166:p.Asn411Ser
Protein change:
N411S; ASN411SER
Links:
UniProtKB: P11166#VAR_076234; OMIM: 138140.0022; dbSNP: rs398123069
NCBI 1000 Genomes Browser:
rs398123069
Molecular consequence:
  • NM_006516.4:c.1232A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epilepsy, idiopathic generalized, susceptibility to, 12 (EIG12)
Identifiers:
MONDO: MONDO:0013919; MedGen: C3553859; OMIM: 614847

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000114920OMIM
no assertion criteria provided
risk factor
(Nov 1, 2012) 		germlineliterature only

Arsov, T., Mullen, S. A., Rogers, S., Phillips, A. M., Lawrence, K. M., Damiano, J. A., Goldberg-Stern, H., Afawi, Z., Kivity, S., Trager, C., Petrou, S., Berkovic, S. F., Scheffer, I. E. Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. Ann. Neurol. 72: 807-815, 2012.

Help

Summary from all submissions

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

Details of each submission

From OMIM, SCV000114920.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

In 2 adult brothers with idiopathic generalized epilepsy (EIG12; 614847), Arsov et al. (2012) identified a heterozygous c.1232A-G transition in exon 9 of the SLC2A1 gene, resulting in an asn411-to-ser (N411S) substitution at a highly conserved residue. In vitro functional expression studies in Xenopus oocytes showed that the N411S substitution caused a marked reduced in glucose transport. Both patients developed childhood absence epilepsy at age 6 years; 1 also had juvenile myoclonic epilepsy. The proband was identified from a cohort of 504 probands with IGE who underwent direct sequencing of the SLC2A1 gene. The mutation was not found in 470 controls and had not previously been reported in databases of normal human genetic variation.

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

Last Updated: Sep 29, 2024