NM_001165963.4(SCN1A):c.637_650delinsCACA (p.Ser213fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 22, 2015
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:: RCV000485303.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.637_650delinsCACA (p.Ser213fs)]

NM_001165963.4(SCN1A):c.637_650delinsCACA (p.Ser213fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001165963.4(SCN1A):c.637_650delinsCACA (p.Ser213fs)

HGVS:

NC_000002.12:g.166052896_166052909delinsTGTG
NG_011906.1:g.25731_25744delinsCACA
NM_001165963.4:c.637_650delinsCACAMANE SELECT
NM_001165964.3:c.637_650delinsCACA
NM_001202435.3:c.637_650delinsCACA
NM_001353948.2:c.637_650delinsCACA
NM_001353949.2:c.637_650delinsCACA
NM_001353950.2:c.637_650delinsCACA
NM_001353951.2:c.637_650delinsCACA
NM_001353952.2:c.637_650delinsCACA
NM_001353954.2:c.637_650delinsCACA
NM_001353955.2:c.637_650delinsCACA
NM_001353957.2:c.637_650delinsCACA
NM_001353958.2:c.637_650delinsCACA
NM_001353960.2:c.637_650delinsCACA
NM_001353961.2:c.-1789_-1776delinsCACA
NM_006920.6:c.637_650delinsCACA
NP_001159435.1:p.Ser213fs
NP_001159436.1:p.Ser213fs
NP_001189364.1:p.Ser213fs
NP_001340877.1:p.Ser213fs
NP_001340878.1:p.Ser213fs
NP_001340879.1:p.Ser213fs
NP_001340880.1:p.Ser213fs
NP_001340881.1:p.Ser213fs
NP_001340883.1:p.Ser213fs
NP_001340884.1:p.Ser213fs
NP_001340886.1:p.Ser213fs
NP_001340887.1:p.Ser213fs
NP_001340889.1:p.Ser213fs
NP_008851.3:p.Ser213fs
LRG_8:g.25731_25744delinsCACA
NC_000002.11:g.166909406_166909419delinsTGTG
NM_001165963.1:c.637_650delTCGGCATTGAGAACinsCACA
NR_148667.2:n.1023_1036delinsCACA

Protein change:

S213fs

Links:

dbSNP: rs1064793678

NCBI 1000 Genomes Browser:

rs1064793678

Molecular consequence:

NM_001353961.2:c.-1789_-1776delinsCACA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001165963.4:c.637_650delinsCACA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001165964.3:c.637_650delinsCACA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001202435.3:c.637_650delinsCACA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353948.2:c.637_650delinsCACA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353949.2:c.637_650delinsCACA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353950.2:c.637_650delinsCACA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353951.2:c.637_650delinsCACA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353952.2:c.637_650delinsCACA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353954.2:c.637_650delinsCACA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353955.2:c.637_650delinsCACA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353957.2:c.637_650delinsCACA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353958.2:c.637_650delinsCACA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353960.2:c.637_650delinsCACA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006920.6:c.637_650delinsCACA - frameshift variant - [Sequence Ontology: SO:0001589]
NR_148667.2:n.1023_1036delinsCACA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000566754	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (May 22, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000566754

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(May 22, 2015)

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, SCV000566754.3

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

Description

The c.637_650del14insCACA variant in the SCN1A gene causes a frameshift starting with codon Serine213, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 9 of thenew reading frame, denoted Ser213HisfsX9. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, we consider it to be pathogenic.

#	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: Apr 23, 2022

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