NM_006920.6(SCN1A):c.2010+10_2010+13del AND Severe myoclonic epilepsy in infancy

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000585813.1

Allele description [Variation Report for NM_006920.6(SCN1A):c.2010+10_2010+13del]

NM_006920.6(SCN1A):c.2010+10_2010+13del

Gene:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_006920.6(SCN1A):c.2010+10_2010+13del
HGVS:
  • NC_000002.12:g.166043692_166043695del
  • NG_011906.1:g.34948_34951del
  • NM_001165963.3:c.2020_2023del
  • NM_001165964.3:c.1959+61_1959+64del
  • NM_001202435.3:c.2020_2023del
  • NM_001353948.2:c.2020_2023del
  • NM_001353949.2:c.2010+10_2010+13del
  • NM_001353950.2:c.2010+10_2010+13del
  • NM_001353951.2:c.2010+10_2010+13del
  • NM_001353952.2:c.2010+10_2010+13del
  • NM_001353954.2:c.2007+10_2007+13del
  • NM_001353955.2:c.2007+10_2007+13del
  • NM_001353957.2:c.1959+61_1959+64del
  • NM_001353958.2:c.1959+61_1959+64del
  • NM_001353960.2:c.1956+61_1956+64del
  • NM_001353961.2:c.-416+10_-416+13del
  • NM_006920.6:c.2010+10_2010+13del
  • NP_001159435.1:p.Asp674fs
  • NP_001189364.1:p.Asp674fs
  • NP_001340877.1:p.Asp674fs
  • LRG_8:g.34948_34951del
  • NC_000002.11:g.166900202_166900205del
Protein change:
D674fs
Links:
dbSNP: rs1553544470
NCBI 1000 Genomes Browser:
rs1553544470
Molecular consequence:
  • NM_001165963.3:c.2020_2023del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001202435.3:c.2020_2023del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353948.2:c.2020_2023del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001165964.3:c.1959+61_1959+64del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353949.2:c.2010+10_2010+13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353950.2:c.2010+10_2010+13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353951.2:c.2010+10_2010+13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353952.2:c.2010+10_2010+13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353954.2:c.2007+10_2007+13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353955.2:c.2007+10_2007+13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353957.2:c.1959+61_1959+64del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353958.2:c.1959+61_1959+64del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353960.2:c.1956+61_1956+64del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353961.2:c.-416+10_-416+13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006920.6:c.2010+10_2010+13del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Severe myoclonic epilepsy in infancy (DRVT)
Synonyms:
Epilepsy, Myoclonic, Infantile, Severe; Dravet syndrome; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
Identifiers:
MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000693808NeuroMeGen,Hospital Clinico Santiago de Compostelacriteria provided, single submitter
Likely pathogenic
(Jan 1, 2018)
de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From NeuroMeGen,Hospital Clinico Santiago de Compostela, SCV000693808.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 7, 2021

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