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NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs) AND Childhood onset GLUT1 deficiency syndrome 2

Germline classification:
Pathogenic (1 submission)
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:
RCV001542521.2

Allele description [Variation Report for NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)]

NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)

Gene:
SLC2A1:solute carrier family 2 member 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)
HGVS:
  • NC_000001.10:g.43395396_43395399del
  • NC_000001.11:g.42929721CTTC[1]
  • NC_000001.11:g.42929721_42929724CTTC[1]
  • NG_008232.1:g.34449GAAG[1]
  • NM_006516.4:c.736_739delMANE SELECT
  • NP_006507.2:p.Glu246fs
  • LRG_1132:g.34449GAAG[1]
  • NC_000001.10:g.43395392CTTC[1]
  • NC_000001.10:g.43395392_43395395del
  • NC_000001.10:g.43395396_43395399del
  • NM_006516.2:c.736_739del
Protein change:
E246fs
Links:
dbSNP: rs1570592604
NCBI 1000 Genomes Browser:
rs1570592604
Molecular consequence:
  • NM_006516.4:c.736_739del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Childhood onset GLUT1 deficiency syndrome 2
Synonyms:
PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012805; MedGen: C1842534; Orphanet: 98811; OMIM: 612126

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001760032Genomics England Pilot Project, Genomics England
criteria provided, single submitter

(ACGS Guidelines, 2016)		Pathogenicgermlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001760032.1

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

Last Updated: Oct 8, 2024