U.S. flag

An official website of the United States government

NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV002508953.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys)]

NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys)

Gene:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys)
HGVS:
  • NC_000002.12:g.166058608A>T
  • NG_011906.1:g.20032T>A
  • NM_001165963.4:c.345T>AMANE SELECT
  • NM_001165964.3:c.345T>A
  • NM_001202435.3:c.345T>A
  • NM_001353948.2:c.345T>A
  • NM_001353949.2:c.345T>A
  • NM_001353950.2:c.345T>A
  • NM_001353951.2:c.345T>A
  • NM_001353952.2:c.345T>A
  • NM_001353954.2:c.345T>A
  • NM_001353955.2:c.345T>A
  • NM_001353957.2:c.345T>A
  • NM_001353958.2:c.345T>A
  • NM_001353960.2:c.345T>A
  • NM_001353961.2:c.-2081T>A
  • NM_006920.6:c.345T>A
  • NP_001159435.1:p.Asn115Lys
  • NP_001159436.1:p.Asn115Lys
  • NP_001189364.1:p.Asn115Lys
  • NP_001340877.1:p.Asn115Lys
  • NP_001340878.1:p.Asn115Lys
  • NP_001340879.1:p.Asn115Lys
  • NP_001340880.1:p.Asn115Lys
  • NP_001340881.1:p.Asn115Lys
  • NP_001340883.1:p.Asn115Lys
  • NP_001340884.1:p.Asn115Lys
  • NP_001340886.1:p.Asn115Lys
  • NP_001340887.1:p.Asn115Lys
  • NP_001340889.1:p.Asn115Lys
  • NP_008851.3:p.Asn115Lys
  • LRG_8:g.20032T>A
  • NC_000002.11:g.166915118A>T
  • NC_000002.11:g.166915118A>T
  • NM_001165963.1:c.345T>A
  • NR_148667.2:n.731T>A
Protein change:
N115K
Links:
dbSNP: rs61741123
NCBI 1000 Genomes Browser:
rs61741123
Molecular consequence:
  • NM_001353961.2:c.-2081T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001165963.4:c.345T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.345T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.345T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.345T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.345T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.345T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.345T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.345T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.345T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.345T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.345T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.345T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.345T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.345T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.731T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Severe myoclonic epilepsy in infancy (DRVT)
Synonyms:
Epilepsy, Myoclonic, Infantile, Severe; Dravet syndrome; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208
Name:
Familial hemiplegic migraine
Identifiers:
MONDO: MONDO:0000700; MedGen: C0338484; OMIM: PS141500
Name:
Generalized epilepsy with febrile seizures plus
Identifiers:
MONDO: MONDO:0018214; MedGen: C3502809; OMIM: PS604233
Name:
Early infantile epileptic encephalopathy with suppression bursts (EIEE)
Synonyms:
Early infantile epileptic encephalopathy; Ohtahara syndrome; Developmental and epileptic encephalopathy
Identifiers:
MONDO: MONDO:0100062; MedGen: C0393706; Orphanet: 1934; OMIM: PS308350

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002818381GenomeConnect, ClinGen
no classification provided
not providedde novophenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002818381.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant classified as Pathogenic and reported on 03-18-2022 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024