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NM_001365999.1(SZT2):c.5025-2A>G AND Developmental and epileptic encephalopathy, 18

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001249341.1

Allele description [Variation Report for NM_001365999.1(SZT2):c.5025-2A>G]

NM_001365999.1(SZT2):c.5025-2A>G

Gene:
SZT2:SZT2 subunit of KICSTOR complex [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_001365999.1(SZT2):c.5025-2A>G
HGVS:
  • NC_000001.11:g.43431458A>G
  • NG_029091.1:g.46574A>G
  • NM_001365999.1:c.5025-2A>GMANE SELECT
  • NM_015284.4:c.4854-2A>G
  • NC_000001.10:g.43897129A>G
  • NM_015284.3:c.4854-2A>G
Links:
dbSNP: rs1557569831
NCBI 1000 Genomes Browser:
rs1557569831
Molecular consequence:
  • NM_001365999.1:c.5025-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_015284.4:c.4854-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 18 (DEE18)
Synonyms:
Early infantile epileptic encephalopathy 18
Identifiers:
MONDO: MONDO:0014201; MedGen: C3809624; Orphanet: 369894; OMIM: 615476

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001423311GenomeConnect, ClinGen
no classification provided
not providedmaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV001423311.1

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

Description

Variant interpretted as Likely pathogenic and reported on 06-02-2016 by Lab or GTR ID 506013. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Oct 8, 2024