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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TTC33 tetratricopeptide repeat domain 33 [Homo sapiens]
TTC33 tetratricopeptide repeat domain 33 [Homo sapiens]
Gene ID:23548

Gene
METAP1 [Oryctolagus cuniculus]
METAP1 [Oryctolagus cuniculus]
Gene ID:100351430

Gene
100351430[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001760032	Genomics England Pilot Project, Genomics England	criteria provided, single submitter (ACGS Guidelines, 2016)	Pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001760032

Genomics England Pilot Project, Genomics England

criteria provided, single submitter

(ACGS Guidelines, 2016)

Pathogenic

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

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

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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