NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs) AND SCN2A-related disorder

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000844957.1

Allele description [Variation Report for NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs)]

NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs)

Gene:

SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs)

HGVS:

NC_000002.12:g.165386921del
NG_008143.1:g.152520del
NM_001040142.2:c.4727delMANE SELECT
NM_001040143.2:c.4727del
NM_001371246.1:c.4727del
NM_001371247.1:c.4727del
NM_021007.3:c.4727del
NP_001035232.1:p.Gly1576fs
NP_001035233.1:p.Gly1576fs
NP_001358175.1:p.Gly1576fs
NP_001358176.1:p.Gly1576fs
NP_066287.2:p.Gly1576fs
NC_000002.11:g.166243431del
NM_021007.2:c.4727del
NM_021007.2:c.4727delG

Protein change:

G1576fs

Links:

dbSNP: rs1553463096

NCBI 1000 Genomes Browser:

rs1553463096

Molecular consequence:

NM_001040142.2:c.4727del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001040143.2:c.4727del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371246.1:c.4727del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371247.1:c.4727del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_021007.3:c.4727del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: SCN2A-related disorder
Synonyms:: SCN2A-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000986782	GenomeConnect, ClinGen	no classification provided	not provided	de novo	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000986782

GenomeConnect, ClinGen

no classification provided

not provided

de novo

phenotyping only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	phenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000986782.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	phenotyping only	not provided

Description

Variant interpretted as pathogenic and reported on 05/18/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	validation		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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