NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter) AND Severe myoclonic epilepsy in infancy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 16, 2016
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:: RCV000416955.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter)]

NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter)

Genes:

SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]

Variant type:

Duplication

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter)

HGVS:

NC_000002.12:g.166013760dup
NG_011906.1:g.64881dup
NM_001165963.4:c.3690dupMANE SELECT
NM_001165964.3:c.3606dup
NM_001202435.3:c.3690dup
NM_001353948.2:c.3690dup
NM_001353949.2:c.3657dup
NM_001353950.2:c.3657dup
NM_001353951.2:c.3657dup
NM_001353952.2:c.3657dup
NM_001353954.2:c.3654dup
NM_001353955.2:c.3654dup
NM_001353957.2:c.3606dup
NM_001353958.2:c.3606dup
NM_001353960.2:c.3603dup
NM_001353961.2:c.1248dup
NM_006920.6:c.3657dup
NP_001159435.1:p.Ser1231Ter
NP_001159436.1:p.Ser1203Ter
NP_001189364.1:p.Ser1231Ter
NP_001340877.1:p.Ser1231Ter
NP_001340878.1:p.Ser1220Ter
NP_001340879.1:p.Ser1220Ter
NP_001340880.1:p.Ser1220Ter
NP_001340881.1:p.Ser1220Ter
NP_001340883.1:p.Ser1219Ter
NP_001340884.1:p.Ser1219Ter
NP_001340886.1:p.Ser1203Ter
NP_001340887.1:p.Ser1203Ter
NP_001340889.1:p.Ser1202Ter
NP_001340890.1:p.Ser417Ter
NP_008851.3:p.Ser1220Ter
LRG_8:g.64881dup
NC_000002.11:g.166870270dup
NM_001165963.1:c.3690dupT
NR_148667.2:n.4043dup

Protein change:

S1202*

Links:

dbSNP: rs1057519534

NCBI 1000 Genomes Browser:

rs1057519534

Molecular consequence:

NR_148667.2:n.4043dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001165963.4:c.3690dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001165964.3:c.3606dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001202435.3:c.3690dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001353948.2:c.3690dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001353949.2:c.3657dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001353950.2:c.3657dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001353951.2:c.3657dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001353952.2:c.3657dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001353954.2:c.3654dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001353955.2:c.3654dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001353957.2:c.3606dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001353958.2:c.3606dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001353960.2:c.3603dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001353961.2:c.1248dup - nonsense - [Sequence Ontology: SO:0001587]
NM_006920.6:c.3657dup - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000494517	Neurogenetics Laboratory - MEYER, AOU Meyer	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 16, 2016)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000494517

Neurogenetics Laboratory - MEYER, AOU Meyer

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 16, 2016)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	no	clinical 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 Neurogenetics Laboratory - MEYER, AOU Meyer, SCV000494517.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	no	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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