NM_001040142.2(SCN2A):c.892A>G (p.Asn298Asp) AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 2, 2024
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:: RCV001042638.8

Allele description [Variation Report for NM_001040142.2(SCN2A):c.892A>G (p.Asn298Asp)]

NM_001040142.2(SCN2A):c.892A>G (p.Asn298Asp)

Gene:

SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001040142.2(SCN2A):c.892A>G (p.Asn298Asp)

HGVS:

NC_000002.12:g.165310517A>G
NG_008143.1:g.76116A>G
NM_001040142.2:c.892A>GMANE SELECT
NM_001040143.2:c.892A>G
NM_001371246.1:c.892A>G
NM_001371247.1:c.892A>G
NM_021007.3:c.892A>G
NP_001035232.1:p.Asn298Asp
NP_001035233.1:p.Asn298Asp
NP_001358175.1:p.Asn298Asp
NP_001358176.1:p.Asn298Asp
NP_066287.2:p.Asn298Asp
NC_000002.11:g.166167027A>G
NM_021007.2:c.892A>G

Protein change:

N298D

Links:

dbSNP: rs754706708

NCBI 1000 Genomes Browser:

rs754706708

Molecular consequence:

NM_001040142.2:c.892A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001040143.2:c.892A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371246.1:c.892A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371247.1:c.892A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_021007.3:c.892A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Seizures, benign familial infantile, 3 (BFIS3)
Synonyms:: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3; Familial neonatal seizures
Identifiers:: MONDO: MONDO:0011904; MedGen: C1843140; Orphanet: 140927; Orphanet: 306; OMIM: 607745

Name:: Developmental and epileptic encephalopathy, 11 (DEE11)
Synonyms:: Early infantile epileptic encephalopathy 11
Identifiers:: MONDO: MONDO:0013388; MedGen: C3150987; Orphanet: 1934; OMIM: 613721

Recent activity

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Alteromonas tagae strain BCRC 17571 16S ribosomal RNA gene, partial sequence
Alteromonas tagae strain BCRC 17571 16S ribosomal RNA gene, partial sequence
gi|1927970007|gb|MW198134.1|

Nucleotide
ribosomal protein L32, partial (chloroplast) [Hypochaeris tenuifolia]
ribosomal protein L32, partial (chloroplast) [Hypochaeris tenuifolia]
gi|262035202|emb|CAX33668.1|

Protein
paired amphipathic helix protein Sin3a [Canis lupus dingo]
paired amphipathic helix protein Sin3a [Canis lupus dingo]
gi|1418256690|ref|XP_025327905.1|

Protein
Mammalia
Mammalia
Phylogenetic relationships of mammals inferred using ultra conserved elements

BioProject
Tssr20839 AND (alive[prop]) (0)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001206334	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 2, 2024)	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

SCV001206334

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 2, 2024)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001206334.5

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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