U.S. flag

An official website of the United States government

NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 12, 2017
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:
RCV002321764.3

Allele description [Variation Report for NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser)]

NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser)

Gene:
SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser)
Other names:
p.G1050S:GGT>AGT
HGVS:
  • NC_000012.12:g.51769111G>A
  • NG_021180.3:g.184154G>A
  • NM_001177984.3:c.3148G>A
  • NM_001330260.2:c.3148G>AMANE SELECT
  • NM_001369788.1:c.3148G>A
  • NM_014191.4:c.3148G>A
  • NP_001171455.1:p.Gly1050Ser
  • NP_001317189.1:p.Gly1050Ser
  • NP_001356717.1:p.Gly1050Ser
  • NP_055006.1:p.Gly1050Ser
  • LRG_1389t1:c.3148G>A
  • LRG_1389t2:c.3148G>A
  • LRG_1389:g.184154G>A
  • LRG_1389p1:p.Gly1050Ser
  • LRG_1389p2:p.Gly1050Ser
  • NC_000012.11:g.52162895G>A
  • NM_001330260.1:c.3148G>A
  • NM_014191.2:c.3148G>A
  • NM_014191.3:c.3148G>A
Protein change:
G1050S
Links:
dbSNP: rs202006479
NCBI 1000 Genomes Browser:
rs202006479
Molecular consequence:
  • NM_001177984.3:c.3148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330260.2:c.3148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369788.1:c.3148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014191.4:c.3148G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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
SCV002610427Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 12, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.

McMichael G, Bainbridge MN, Haan E, Corbett M, Gardner A, Thompson S, van Bon BW, van Eyk CL, Broadbent J, Reynolds C, O'Callaghan ME, Nguyen LS, Adelson DL, Russo R, Jhangiani S, Doddapaneni H, Muzny DM, Gibbs RA, Gecz J, MacLennan AH.

Mol Psychiatry. 2015 Feb;20(2):176-82. doi: 10.1038/mp.2014.189. Epub 2015 Feb 10.

PubMed [citation]
PMID:
25666757

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

Butler KM, da Silva C, Shafir Y, Weisfeld-Adams JD, Alexander JJ, Hegde M, Escayg A.

Epilepsy Res. 2017 Jan;129:17-25. doi: 10.1016/j.eplepsyres.2016.11.002. Epub 2016 Nov 6.

PubMed [citation]
PMID:
27875746
PMCID:
PMC5321682

Details of each submission

From Ambry Genetics, SCV002610427.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 26, 2024