NM_001165963.4(SCN1A):c.632A>G (p.Asn211Ser) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 14, 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:: RCV000498818.3

Allele description [Variation Report for NM_001165963.4(SCN1A):c.632A>G (p.Asn211Ser)]

NM_001165963.4(SCN1A):c.632A>G (p.Asn211Ser)

Gene:

SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001165963.4(SCN1A):c.632A>G (p.Asn211Ser)

HGVS:

NC_000002.12:g.166052914T>C
NG_011906.1:g.25726A>G
NM_001165963.4:c.632A>GMANE SELECT
NM_001165964.3:c.632A>G
NM_001202435.3:c.632A>G
NM_001353948.2:c.632A>G
NM_001353949.2:c.632A>G
NM_001353950.2:c.632A>G
NM_001353951.2:c.632A>G
NM_001353952.2:c.632A>G
NM_001353954.2:c.632A>G
NM_001353955.2:c.632A>G
NM_001353957.2:c.632A>G
NM_001353958.2:c.632A>G
NM_001353960.2:c.632A>G
NM_001353961.2:c.-1794A>G
NM_006920.6:c.632A>G
NP_001159435.1:p.Asn211Ser
NP_001159436.1:p.Asn211Ser
NP_001189364.1:p.Asn211Ser
NP_001340877.1:p.Asn211Ser
NP_001340878.1:p.Asn211Ser
NP_001340879.1:p.Asn211Ser
NP_001340880.1:p.Asn211Ser
NP_001340881.1:p.Asn211Ser
NP_001340883.1:p.Asn211Ser
NP_001340884.1:p.Asn211Ser
NP_001340886.1:p.Asn211Ser
NP_001340887.1:p.Asn211Ser
NP_001340889.1:p.Asn211Ser
NP_008851.3:p.Asn211Ser
LRG_8:g.25726A>G
NC_000002.11:g.166909424T>C
NM_001165963.1:c.632A>G
NR_148667.2:n.1018A>G

Protein change:

N211S

Links:

dbSNP: rs1553550618

NCBI 1000 Genomes Browser:

rs1553550618

Molecular consequence:

NM_001353961.2:c.-1794A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001165963.4:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001165964.3:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001202435.3:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353948.2:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353949.2:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353950.2:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353951.2:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353952.2:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353954.2:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353955.2:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353957.2:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353958.2:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353960.2:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006920.6:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148667.2:n.1018A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000589385	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Feb 14, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000589385

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Feb 14, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000589385.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This substitution is predicted to be within the extracellular loop between the S3 and S4 transmembrane segments of the first homologous domain.; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 29, 2024

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