NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) AND SCN1A-Related Disorders

Clinical significance:Benign (Last evaluated: Apr 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001132318.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)]

NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)

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.3481G>A (p.Ala1161Thr)
Other names:
p.A1161T:GCA>ACA
HGVS:
  • NC_000002.12:g.166015676C>T
  • NG_011906.1:g.62964G>A
  • NM_001165963.4:c.3481G>AMANE SELECT
  • NM_001165963.4:c.3481G>A
  • NM_001165964.3:c.3397G>A
  • NM_001202435.3:c.3481G>A
  • NM_001353948.2:c.3481G>A
  • NM_001353949.2:c.3448G>A
  • NM_001353950.2:c.3448G>A
  • NM_001353951.2:c.3448G>A
  • NM_001353952.2:c.3448G>A
  • NM_001353954.2:c.3445G>A
  • NM_001353955.2:c.3445G>A
  • NM_001353957.2:c.3397G>A
  • NM_001353958.2:c.3397G>A
  • NM_001353960.2:c.3394G>A
  • NM_001353961.2:c.1039G>A
  • NM_006920.6:c.3448G>A
  • NP_001159435.1:p.Ala1161Thr
  • NP_001159436.1:p.Ala1133Thr
  • NP_001189364.1:p.Ala1161Thr
  • NP_001340877.1:p.Ala1161Thr
  • NP_001340878.1:p.Ala1150Thr
  • NP_001340879.1:p.Ala1150Thr
  • NP_001340880.1:p.Ala1150Thr
  • NP_001340881.1:p.Ala1150Thr
  • NP_001340883.1:p.Ala1149Thr
  • NP_001340884.1:p.Ala1149Thr
  • NP_001340886.1:p.Ala1133Thr
  • NP_001340887.1:p.Ala1133Thr
  • NP_001340889.1:p.Ala1132Thr
  • NP_001340890.1:p.Ala347Thr
  • NP_008851.3:p.Ala1150Thr
  • LRG_8:g.62964G>A
  • NC_000002.11:g.166872186C>T
  • NM_001165963.1:c.3481G>A
  • NR_110598.1:n.239C>T
  • NR_148667.2:n.3834G>A
Protein change:
A1132T
Links:
dbSNP: rs201079458
NCBI 1000 Genomes Browser:
rs201079458
Molecular consequence:
  • NM_001165963.4:c.3481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.3397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.3481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.3481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.3448G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.3448G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.3448G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.3448G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.3445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.3445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.3397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.3397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.3394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.1039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.3448G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110598.1:n.239C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148667.2:n.3834G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
SCN1A-Related Disorders
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001291977Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Apr 28, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH.

Am J Hum Genet. 2001 Apr;68(4):866-73. Epub 2001 Mar 14.

PubMed [citation]
PMID:
11254445
PMCID:
PMC1275640

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001291977.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Oct 8, 2021

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