NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs) AND Severe myoclonic epilepsy in infancy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 14, 2022
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:: RCV001823029.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs)]

NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs)

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.3889dup (p.Val1297fs)

HGVS:

NC_000002.12:g.166009833dup
NG_011906.1:g.68808dup
NM_001165963.4:c.3889dupMANE SELECT
NM_001165964.3:c.3805dup
NM_001202435.3:c.3889dup
NM_001353948.2:c.3889dup
NM_001353949.2:c.3856dup
NM_001353950.2:c.3856dup
NM_001353951.2:c.3856dup
NM_001353952.2:c.3856dup
NM_001353954.2:c.3853dup
NM_001353955.2:c.3853dup
NM_001353957.2:c.3805dup
NM_001353958.2:c.3805dup
NM_001353960.2:c.3802dup
NM_001353961.2:c.1447dup
NM_006920.6:c.3856dup
NP_001159435.1:p.Val1297fs
NP_001159436.1:p.Val1269fs
NP_001189364.1:p.Val1297fs
NP_001340877.1:p.Val1297fs
NP_001340878.1:p.Val1286fs
NP_001340879.1:p.Val1286fs
NP_001340880.1:p.Val1286fs
NP_001340881.1:p.Val1286fs
NP_001340883.1:p.Val1285fs
NP_001340884.1:p.Val1285fs
NP_001340886.1:p.Val1269fs
NP_001340887.1:p.Val1269fs
NP_001340889.1:p.Val1268fs
NP_001340890.1:p.Val483fs
NP_008851.3:p.Val1286fs
LRG_8:g.68808dup
NC_000002.11:g.166866343dup
NM_001165963.3:c.3889dup
NR_148667.2:n.4242dup

Protein change:

V1268fs

Links:

dbSNP: rs2105571418

NCBI 1000 Genomes Browser:

rs2105571418

Molecular consequence:

NM_001165963.4:c.3889dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001165964.3:c.3805dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001202435.3:c.3889dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353948.2:c.3889dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353949.2:c.3856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353950.2:c.3856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353951.2:c.3856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353952.2:c.3856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353954.2:c.3853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353955.2:c.3853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353957.2:c.3805dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353958.2:c.3805dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353960.2:c.3802dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353961.2:c.1447dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006920.6:c.3856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_148667.2:n.4242dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002072541	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 14, 2022)	unknown	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

SCV002072541

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 14, 2022)

unknown

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	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 Institute of Human Genetics, University of Leipzig Medical Center, SCV002072541.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

_x000D_ Criteria applied: PVS1, PM2_SUP

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

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine