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NM_001040142.2(SCN2A):c.4644G>C (p.Met1548Ile) AND Developmental and epileptic encephalopathy, 11

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 9, 2019
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:
RCV001028090.1

Allele description [Variation Report for NM_001040142.2(SCN2A):c.4644G>C (p.Met1548Ile)]

NM_001040142.2(SCN2A):c.4644G>C (p.Met1548Ile)

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.4644G>C (p.Met1548Ile)
HGVS:
  • NC_000002.12:g.165386838G>C
  • NG_008143.1:g.152437G>C
  • NM_001040142.2:c.4644G>CMANE SELECT
  • NM_001040143.2:c.4644G>C
  • NM_001371246.1:c.4644G>C
  • NM_001371247.1:c.4644G>C
  • NM_021007.3:c.4644G>C
  • NP_001035232.1:p.Met1548Ile
  • NP_001035233.1:p.Met1548Ile
  • NP_001358175.1:p.Met1548Ile
  • NP_001358176.1:p.Met1548Ile
  • NP_066287.2:p.Met1548Ile
  • NC_000002.11:g.166243348G>C
  • NM_021007.2:c.4644G>C
Protein change:
M1548I
Links:
dbSNP: rs1574746759
NCBI 1000 Genomes Browser:
rs1574746759
Molecular consequence:
  • NM_001040142.2:c.4644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040143.2:c.4644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371246.1:c.4644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371247.1:c.4644G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021007.3:c.4644G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001190873HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 9, 2019) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedresearch

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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGS, SCV001190873.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Aug 5, 2023