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NM_001330260.2(SCN8A):c.3942+2_3942+5dup AND multiple conditions

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:
RCV002508958.2

Allele description [Variation Report for NM_001330260.2(SCN8A):c.3942+2_3942+5dup]

NM_001330260.2(SCN8A):c.3942+2_3942+5dup

Gene:
SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_001330260.2(SCN8A):c.3942+2_3942+5dup
HGVS:
  • NC_000012.12:g.51780773_51780776dup
  • NG_021180.3:g.195816_195819dup
  • NM_001177984.3:c.3820-5769_3820-5766dup
  • NM_001330260.2:c.3942+2_3942+5dupMANE SELECT
  • NM_001369788.1:c.3820-5769_3820-5766dup
  • NM_014191.4:c.3942+2_3942+5dup
  • LRG_1389t1:c.3942+2_3942+5dup
  • LRG_1389t2:c.3942+2_3942+5dup
  • LRG_1389:g.195816_195819dup
  • NC_000012.11:g.52174555_52174556insGTAA
  • NC_000012.11:g.52174557_52174560dup
Links:
dbSNP: rs764867016
NCBI 1000 Genomes Browser:
rs764867016
Molecular consequence:
  • NM_001177984.3:c.3820-5769_3820-5766dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369788.1:c.3820-5769_3820-5766dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330260.2:c.3942+2_3942+5dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_014191.4:c.3942+2_3942+5dup - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 13 (DEE13)
Synonyms:
Early infantile epileptic encephalopathy 13; SCN8A-Related Epilepsy
Identifiers:
MONDO: MONDO:0013801; MedGen: C3281191; Orphanet: 442835; OMIM: 614558
Name:
Seizures, benign familial infantile, 5 (BFIS5)
Synonyms:
CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5
Identifiers:
MONDO: MONDO:0014903; MedGen: C4310728; Orphanet: 306; OMIM: 617080

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002818342GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

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

Details of each submission

From GenomeConnect, ClinGen, SCV002818342.2

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

Description

Variant classified as Uncertain significance and reported on 06-11-2020 by Lab or GTR ID 500031. 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
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024