NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) AND Developmental and epileptic encephalopathy 6B

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 14, 2023
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:: RCV003448283.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)]

NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)

Other names:

p.D998E:GAC>GAA

HGVS:

NC_000002.12:g.166036483G>T
NG_011906.1:g.42157C>A
NM_001165963.4:c.2994C>AMANE SELECT
NM_001165964.3:c.2910C>A
NM_001202435.3:c.2994C>A
NM_001353948.2:c.2994C>A
NM_001353949.2:c.2961C>A
NM_001353950.2:c.2961C>A
NM_001353951.2:c.2961C>A
NM_001353952.2:c.2961C>A
NM_001353954.2:c.2958C>A
NM_001353955.2:c.2958C>A
NM_001353957.2:c.2910C>A
NM_001353958.2:c.2910C>A
NM_001353960.2:c.2907C>A
NM_001353961.2:c.552C>A
NM_006920.6:c.2961C>A
NP_001159435.1:p.Asp998Glu
NP_001159436.1:p.Asp970Glu
NP_001189364.1:p.Asp998Glu
NP_001340877.1:p.Asp998Glu
NP_001340878.1:p.Asp987Glu
NP_001340879.1:p.Asp987Glu
NP_001340880.1:p.Asp987Glu
NP_001340881.1:p.Asp987Glu
NP_001340883.1:p.Asp986Glu
NP_001340884.1:p.Asp986Glu
NP_001340886.1:p.Asp970Glu
NP_001340887.1:p.Asp970Glu
NP_001340889.1:p.Asp969Glu
NP_001340890.1:p.Asp184Glu
NP_008851.3:p.Asp987Glu
LRG_8:g.42157C>A
NC_000002.11:g.166892993G>T
NM_001165963.1:c.2994C>A
NM_001165963.3:c.2994C>A
NR_148667.2:n.3347C>A

Protein change:

D184E

Links:

dbSNP: rs796052991

NCBI 1000 Genomes Browser:

rs796052991

Molecular consequence:

NM_001165963.4:c.2994C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001165964.3:c.2910C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001202435.3:c.2994C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353948.2:c.2994C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353949.2:c.2961C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353950.2:c.2961C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353951.2:c.2961C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353952.2:c.2961C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353954.2:c.2958C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353955.2:c.2958C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353957.2:c.2910C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353958.2:c.2910C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353960.2:c.2907C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353961.2:c.552C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006920.6:c.2961C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_148667.2:n.3347C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Developmental and epileptic encephalopathy 6B
Synonyms:: Developmental and epileptic encephalopathy 6B, non-Dravet
Identifiers:: MONDO: MONDO:0030268; MedGen: C5543353; OMIM: 619317

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004176673	Neuberg Centre For Genomic Medicine, NCGM	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 14, 2023)	germline	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

SCV004176673

Neuberg Centre For Genomic Medicine, NCGM

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 14, 2023)

germline

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	germline	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 Neuberg Centre For Genomic Medicine, NCGM, SCV004176673.1

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

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

Last Updated: Sep 29, 2024

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