U.S. flag

An official website of the United States government

NM_001040142.2(SCN2A):c.1094C>T (p.Thr365Met) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 5, 2024
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:
RCV004246054.1

Allele description [Variation Report for NM_001040142.2(SCN2A):c.1094C>T (p.Thr365Met)]

NM_001040142.2(SCN2A):c.1094C>T (p.Thr365Met)

Gene:
SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001040142.2(SCN2A):c.1094C>T (p.Thr365Met)
HGVS:
  • NC_000002.12:g.165313679C>T
  • NG_008143.1:g.79278C>T
  • NM_001040142.2:c.1094C>TMANE SELECT
  • NM_001040143.2:c.1094C>T
  • NM_001371246.1:c.1094C>T
  • NM_001371247.1:c.1094C>T
  • NM_021007.3:c.1094C>T
  • NP_001035232.1:p.Thr365Met
  • NP_001035233.1:p.Thr365Met
  • NP_001358175.1:p.Thr365Met
  • NP_001358176.1:p.Thr365Met
  • NP_066287.2:p.Thr365Met
  • NC_000002.11:g.166170189C>T
  • NM_021007.2:c.1094C>T
Protein change:
T365M
Molecular consequence:
  • NM_001040142.2:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040143.2:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371246.1:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371247.1:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021007.3:c.1094C>T - 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
SCV004944203Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 5, 2024) 		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

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T, Guo H, Xiong B, Stessman HA, Wu H, Coe BP, Turner TN, Liu Y, Zhao W, Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Lin J, Kronenberg ZN, Peng Y, Bai T, et al.

Nat Commun. 2016 Nov 8;7:13316. doi: 10.1038/ncomms13316.

PubMed [citation]
PMID:
27824329
PMCID:
PMC5105161

Details of each submission

From Ambry Genetics, SCV004944203.1

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

Description

The c.1094C>T (p.T365M) alteration is located in exon 9 (coding exon 8) of the SCN2A gene. This alteration results from a C to T substitution at nucleotide position 1094, causing the threonine (T) at amino acid position 365 to be replaced by a methionine (M). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been determined to be the result of a de novo mutation in one individual with features consistent with SCN2A-related neurodevelopmental disorder (Wang, 2016). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: May 7, 2024