NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) AND Epilepsy

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000390173.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=)]

NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=)

Genes:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=)
Other names:
p.L1649L:CTG>TTG
HGVS:
  • NC_000002.12:g.165992330G>A
  • NG_011906.1:g.86310C>T
  • NM_001165963.4:c.4945C>TMANE SELECT
  • NM_001165963.4:c.4945C>T
  • NM_001165964.3:c.4861C>T
  • NM_001202435.3:c.4945C>T
  • NM_001353948.2:c.4945C>T
  • NM_001353949.2:c.4912C>T
  • NM_001353950.2:c.4912C>T
  • NM_001353951.2:c.4912C>T
  • NM_001353952.2:c.4912C>T
  • NM_001353954.2:c.4909C>T
  • NM_001353955.2:c.4909C>T
  • NM_001353957.2:c.4861C>T
  • NM_001353958.2:c.4861C>T
  • NM_001353960.2:c.4858C>T
  • NM_001353961.2:c.2503C>T
  • NM_006920.6:c.4912C>T
  • NP_001159435.1:p.Leu1649=
  • NP_001159436.1:p.Leu1621=
  • NP_001189364.1:p.Leu1649=
  • NP_001340877.1:p.Leu1649=
  • NP_001340878.1:p.Leu1638=
  • NP_001340879.1:p.Leu1638=
  • NP_001340880.1:p.Leu1638=
  • NP_001340881.1:p.Leu1638=
  • NP_001340883.1:p.Leu1637=
  • NP_001340884.1:p.Leu1637=
  • NP_001340886.1:p.Leu1621=
  • NP_001340887.1:p.Leu1621=
  • NP_001340889.1:p.Leu1620=
  • NP_001340890.1:p.Leu835=
  • NP_008851.3:p.Leu1638=
  • LRG_8:g.86310C>T
  • NC_000002.11:g.166848840G>A
  • NM_001165963.1:c.4945C>T
  • NR_148667.2:n.5362C>T
  • p.Leu1649Leu
Links:
dbSNP: rs148546224
NCBI 1000 Genomes Browser:
rs148546224
Molecular consequence:
  • NR_148667.2:n.5362C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001165963.4:c.4945C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001165964.3:c.4861C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001202435.3:c.4945C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353948.2:c.4945C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353949.2:c.4912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353950.2:c.4912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353951.2:c.4912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353952.2:c.4912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353954.2:c.4909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353955.2:c.4909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353957.2:c.4861C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353958.2:c.4861C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353960.2:c.4858C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353961.2:c.2503C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_006920.6:c.4912C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Epilepsy
Synonyms:
Seizure Disorders
Identifiers:
MONDO: MONDO:0005027; MeSH: D004827; MedGen: C0014544

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000417770Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000417770.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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