NM_001165963.4(SCN1A):c.5404G>A (p.Glu1802Lys) AND Generalized epilepsy with febrile seizures plus, type 2

Germline classification:: Uncertain significance (1 submission)
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:: RCV003330101.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5404G>A (p.Glu1802Lys)]

NM_001165963.4(SCN1A):c.5404G>A (p.Glu1802Lys)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001165963.4(SCN1A):c.5404G>A (p.Glu1802Lys)

HGVS:

NC_000002.12:g.165991871C>T
NG_011906.1:g.86769G>A
NM_001165963.1:c.5404G>A
NM_001165963.4:c.5404G>AMANE SELECT
NM_001165964.3:c.5320G>A
NM_001202435.3:c.5404G>A
NM_001353948.2:c.5404G>A
NM_001353949.2:c.5371G>A
NM_001353950.2:c.5371G>A
NM_001353951.2:c.5371G>A
NM_001353952.2:c.5371G>A
NM_001353954.2:c.5368G>A
NM_001353955.2:c.5368G>A
NM_001353957.2:c.5320G>A
NM_001353958.2:c.5320G>A
NM_001353960.2:c.5317G>A
NM_001353961.2:c.2962G>A
NM_006920.6:c.5371G>A
NP_001159435.1:p.Glu1802Lys
NP_001159436.1:p.Glu1774Lys
NP_001189364.1:p.Glu1802Lys
NP_001340877.1:p.Glu1802Lys
NP_001340878.1:p.Glu1791Lys
NP_001340879.1:p.Glu1791Lys
NP_001340880.1:p.Glu1791Lys
NP_001340881.1:p.Glu1791Lys
NP_001340883.1:p.Glu1790Lys
NP_001340884.1:p.Glu1790Lys
NP_001340886.1:p.Glu1774Lys
NP_001340887.1:p.Glu1774Lys
NP_001340889.1:p.Glu1773Lys
NP_001340890.1:p.Glu988Lys
NP_008851.3:p.Glu1791Lys
LRG_8:g.86769G>A
NC_000002.11:g.166848381C>T
NR_148667.2:n.5821G>A

Protein change:

E1773K

Links:

dbSNP: rs794726780

NCBI 1000 Genomes Browser:

rs794726780

Molecular consequence:

NM_001165963.4:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001165964.3:c.5320G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001202435.3:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353948.2:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353949.2:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353950.2:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353951.2:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353952.2:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353954.2:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353955.2:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353957.2:c.5320G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353958.2:c.5320G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353960.2:c.5317G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353961.2:c.2962G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006920.6:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_148667.2:n.5821G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2)
Synonyms:: GEFS+, TYPE 2
Identifiers:: MONDO: MONDO:0011461; MedGen: C1858673; Orphanet: 36387; OMIM: 604403

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004037175	Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004037175

Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

not provided

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	not provided

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 for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, SCV004037175.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	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: May 12, 2024

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