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NM_001040142.2(SCN2A):c.1270G>T (p.Val424Leu) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001003953.2

Allele description [Variation Report for NM_001040142.2(SCN2A):c.1270G>T (p.Val424Leu)]

NM_001040142.2(SCN2A):c.1270G>T (p.Val424Leu)

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.1270G>T (p.Val424Leu)
HGVS:
  • NC_000002.12:g.165313995G>T
  • NG_008143.1:g.79594G>T
  • NM_001040142.2:c.1270G>TMANE SELECT
  • NM_001040143.2:c.1270G>T
  • NM_001371246.1:c.1270G>T
  • NM_001371247.1:c.1270G>T
  • NM_021007.3:c.1270G>T
  • NP_001035232.1:p.Val424Leu
  • NP_001035233.1:p.Val424Leu
  • NP_001358175.1:p.Val424Leu
  • NP_001358176.1:p.Val424Leu
  • NP_066287.2:p.Val424Leu
  • NC_000002.11:g.166170505G>T
Protein change:
V424L
Links:
dbSNP: rs1574567728
NCBI 1000 Genomes Browser:
rs1574567728
Molecular consequence:
  • NM_001040142.2:c.1270G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040143.2:c.1270G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371246.1:c.1270G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371247.1:c.1270G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021007.3:c.1270G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Movement disorder
Synonyms:
Abnormality of movement
Identifiers:
MONDO: MONDO:0005395; MedGen: C0026650; Human Phenotype Ontology: HP:0100022

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161943NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Likely pathogenicunknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, et al.

Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed [citation]
PMID:
32581362
PMCID:
PMC7610553

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001161943.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024