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NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) AND Childhood epilepsy with centrotemporal spikes

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2017
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:
RCV000655984.2

Allele description [Variation Report for NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)]

NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)

Genes:
SCN1A-AS1:SCN1A and SCN9A antisense RNA 1 [Gene - HGNC]
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)
HGVS:
  • NC_000002.12:g.166233432G>C
  • NG_012798.1:g.147556C>G
  • NM_001365536.1:c.3832C>GMANE SELECT
  • NM_002977.4:c.3799C>G
  • NP_001352465.1:p.Leu1278Val
  • NP_002968.1:p.Leu1267Val
  • NP_002968.1:p.Leu1267Val
  • NP_002968.2:p.Leu1267Val
  • LRG_369t1:c.3799C>G
  • LRG_369:g.147556C>G
  • LRG_369p1:p.Leu1267Val
  • NC_000002.11:g.167089942G>C
  • NM_002977.2:c.3799C>G
  • NM_002977.3:c.3799C>G
Protein change:
L1267V
Links:
dbSNP: rs180922748
NCBI 1000 Genomes Browser:
rs180922748
Molecular consequence:
  • NM_001365536.1:c.3832C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002977.4:c.3799C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Childhood epilepsy with centrotemporal spikes
Synonyms:
Rolandic epilepsy
Identifiers:
MONDO: MONDO:0007295; MedGen: C0376532; Orphanet: 1945

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000588260Bioinformatics Core, Luxembourg Center for Systems Biomedicine - EUROEPINOMICS COGIE
no assertion criteria provided
Pathogenic
(Jan 1, 2017) 		germlinecase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcase-control

Citations

PubMed

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

Bobbili DR, Lal D, May P, Reinthaler EM, Jabbari K, Thiele H, Nothnagel M, Jurkowski W, Feucht M, Nürnberg P, Lerche H, Zimprich F, Krause R, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Steinböck H, Neophytou B, Geldner J, Gruber-Sedlmayr U, Haberlandt E, et al.

Eur J Hum Genet. 2018 Feb;26(2):258-264. doi: 10.1038/s41431-017-0034-x. Epub 2018 Jan 22.

PubMed [citation]
PMID:
29358611
PMCID:
PMC5839048

Details of each submission

From Bioinformatics Core, Luxembourg Center for Systems Biomedicine - EUROEPINOMICS COGIE, SCV000588260.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-control PubMed (1)

Description

CAADphred>15

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024