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NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 7, 2018
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:
RCV002345392.9

Allele description [Variation Report for NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)]

NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)

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.3776T>C (p.Phe1259Ser)
Other names:
p.F1259S:TTC>TCC
HGVS:
  • NC_000002.12:g.166012212A>G
  • NG_011906.1:g.66428T>C
  • NM_001165963.4:c.3776T>CMANE SELECT
  • NM_001165963.4:c.3776T>C
  • NM_001165964.3:c.3692T>C
  • NM_001202435.3:c.3776T>C
  • NM_001353948.2:c.3776T>C
  • NM_001353949.2:c.3743T>C
  • NM_001353950.2:c.3743T>C
  • NM_001353951.2:c.3743T>C
  • NM_001353952.2:c.3743T>C
  • NM_001353954.2:c.3740T>C
  • NM_001353955.2:c.3740T>C
  • NM_001353957.2:c.3692T>C
  • NM_001353958.2:c.3692T>C
  • NM_001353960.2:c.3689T>C
  • NM_001353961.2:c.1334T>C
  • NM_006920.6:c.3743T>C
  • NP_001159435.1:p.Phe1259Ser
  • NP_001159436.1:p.Phe1231Ser
  • NP_001189364.1:p.Phe1259Ser
  • NP_001340877.1:p.Phe1259Ser
  • NP_001340878.1:p.Phe1248Ser
  • NP_001340879.1:p.Phe1248Ser
  • NP_001340880.1:p.Phe1248Ser
  • NP_001340881.1:p.Phe1248Ser
  • NP_001340883.1:p.Phe1247Ser
  • NP_001340884.1:p.Phe1247Ser
  • NP_001340886.1:p.Phe1231Ser
  • NP_001340887.1:p.Phe1231Ser
  • NP_001340889.1:p.Phe1230Ser
  • NP_001340890.1:p.Phe445Ser
  • NP_008851.3:p.Phe1248Ser
  • LRG_8:g.66428T>C
  • NC_000002.11:g.166868722A>G
  • NC_000002.11:g.166868722A>G
  • NM_001165963.1:c.3776T>C
  • NR_148667.2:n.4129T>C
Protein change:
F1230S
Links:
dbSNP: rs398123591
NCBI 1000 Genomes Browser:
rs398123591
Molecular consequence:
  • NM_001165963.4:c.3776T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.3692T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.3776T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.3776T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.3743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.3743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.3743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.3743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.3740T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.3740T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.3692T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.3692T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.3689T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.1334T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.3743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.4129T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002623511Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 7, 2018) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome.

Moehring J, von Spiczak S, Moeller F, Helbig I, Wolff S, Jansen O, Muhle H, Boor R, Stephani U, Siniatchkin M.

Epilepsia. 2013 May;54(5):918-26. doi: 10.1111/epi.12119. Epub 2013 Feb 8.

PubMed [citation]
PMID:
23398550

Details of each submission

From Ambry Genetics, SCV002623511.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.F1259S variant (also known as c.3776T>C), located in coding exon 19 of the SCN1A gene, results from a T to C substitution at nucleotide position 3776. The phenylalanine at codon 1259 is replaced by serine, an amino acid with highly dissimilar properties. A different alteration located at the same position, p.F1259C, was detected in an individual with Dravet syndrome (Moehring J et al. Epilepsia, 2013 May;54:918-26). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Jun 9, 2024