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NM_006516.4(SLC2A1):c.1186_1188delinsTGA (p.Ser396Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 18, 2017
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:
RCV000520991.1

Allele description [Variation Report for NM_006516.4(SLC2A1):c.1186_1188delinsTGA (p.Ser396Ter)]

NM_006516.4(SLC2A1):c.1186_1188delinsTGA (p.Ser396Ter)

Gene:
SLC2A1:solute carrier family 2 member 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_006516.4(SLC2A1):c.1186_1188delinsTGA (p.Ser396Ter)
HGVS:
  • NC_000001.11:g.42927695_42927697delinsTCA
  • NG_008232.1:g.36480_36482delinsTGA
  • NM_006516.4:c.1186_1188delinsTGAMANE SELECT
  • NP_006507.2:p.Ser396Ter
  • LRG_1132:g.36480_36482delinsTGA
  • NC_000001.10:g.43393366_43393368delinsTCA
  • NM_006516.2:c.1186_1188delAGCinsTGA
Protein change:
S396*
Links:
dbSNP: rs1553155885
NCBI 1000 Genomes Browser:
rs1553155885
Molecular consequence:
  • NM_006516.4:c.1186_1188delinsTGA - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000618384GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 18, 2017) 		germlineclinical 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 GeneDx, SCV000618384.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1186_1188delAGCinsTGA pathogenic variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1186_1188delAGCinsTGA variant results in an in-frame deletion of a single Serine residue and the insertion of a premature Stop codon at amino acid position 396, denoted S396X. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1186_1188delAGCinsTGA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, the presence of c.1186_1188delAGCinsTGA is consistent with the diagnosis of Glut1-DS in this individual.

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

Last Updated: Apr 23, 2022