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NM_001040142.2(SCN2A):c.606-159A>G

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 15, 2019)
Last evaluated:
Aug 28, 2018
Accession:
VCV000488391.2
Variation ID:
488391
Description:
single nucleotide variant
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NM_001040142.2(SCN2A):c.606-159A>G

Allele ID
481228
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 165309193 (GRCh38) GRCh38 UCSC
2: 166165703 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.166165703A>G
NC_000002.12:g.165309193A>G
NG_008143.1:g.74792A>G
... more HGVS
Protein change
N212D
Other names
-
Canonical SPDI
NC_000002.12:165309192:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA349016966
dbSNP: rs1553567473
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Aug 28, 2018 RCV000578189.2

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN2A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1416 1474

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 11, 2017)
criteria provided, single submitter
Method: clinical testing
Early infantile epileptic encephalopathy 11
(Autosomal dominant inheritance)
Allele origin: de novo
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute
Accession: SCV000680024.1
Submitted: (Nov 09, 2017)
Evidence details
Comment:
A heterozygous missense variant was identified, NM_001040143.1(SCN2A):c.634A>G in exon 5 of the SCN2A gene (neonatal isoform). This substitution is predicted to create a minor amino … (more)
Pathogenic
(Aug 28, 2018)
criteria provided, single submitter
Method: clinical testing
Early infantile epileptic encephalopathy 11
Allele origin: de novo
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV000966183.1
Submitted: (Feb 15, 2019)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1553567473...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 20, 2021