NM_001165963.4(SCN1A):c.1323_1328del (p.Ala442_Glu443del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 1, 2020
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:: RCV001171718.22

Allele description [Variation Report for NM_001165963.4(SCN1A):c.1323_1328del (p.Ala442_Glu443del)]

NM_001165963.4(SCN1A):c.1323_1328del (p.Ala442_Glu443del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001165963.4(SCN1A):c.1323_1328del (p.Ala442_Glu443del)

HGVS:

NC_000002.12:g.166046821_166046826del
NG_011906.1:g.31816_31821del
NM_001165963.4:c.1323_1328delMANE SELECT
NM_001165964.3:c.1323_1328del
NM_001202435.3:c.1323_1328del
NM_001353948.2:c.1323_1328del
NM_001353949.2:c.1323_1328del
NM_001353950.2:c.1323_1328del
NM_001353951.2:c.1323_1328del
NM_001353952.2:c.1323_1328del
NM_001353954.2:c.1323_1328del
NM_001353955.2:c.1323_1328del
NM_001353957.2:c.1323_1328del
NM_001353958.2:c.1323_1328del
NM_001353960.2:c.1323_1328del
NM_001353961.2:c.-1103_-1098del
NM_006920.6:c.1323_1328del
NP_001159435.1:p.Ala442_Glu443del
NP_001159436.1:p.Ala442_Glu443del
NP_001189364.1:p.Ala442_Glu443del
NP_001340877.1:p.Ala442_Glu443del
NP_001340878.1:p.Ala442_Glu443del
NP_001340879.1:p.Ala442_Glu443del
NP_001340880.1:p.Ala442_Glu443del
NP_001340881.1:p.Ala442_Glu443del
NP_001340883.1:p.Ala442_Glu443del
NP_001340884.1:p.Ala442_Glu443del
NP_001340886.1:p.Ala442_Glu443del
NP_001340887.1:p.Ala442_Glu443del
NP_001340889.1:p.Ala442_Glu443del
NP_008851.3:p.Ala442_Glu443del
LRG_8:g.31816_31821del
NC_000002.11:g.166903329_166903334del
NC_000002.11:g.166903331_166903336del
NR_148667.2:n.1709_1714del

Links:

dbSNP: rs1697886499

NCBI 1000 Genomes Browser:

rs1697886499

Molecular consequence:

NM_001353961.2:c.-1103_-1098del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001165963.4:c.1323_1328del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001165964.3:c.1323_1328del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001202435.3:c.1323_1328del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001353948.2:c.1323_1328del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001353949.2:c.1323_1328del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001353950.2:c.1323_1328del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001353951.2:c.1323_1328del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001353952.2:c.1323_1328del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001353954.2:c.1323_1328del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001353955.2:c.1323_1328del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001353957.2:c.1323_1328del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001353958.2:c.1323_1328del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001353960.2:c.1323_1328del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_006920.6:c.1323_1328del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_148667.2:n.1709_1714del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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BJ624883 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cD...
BJ624883 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cDNA clone XL209n20 5', mRNA sequence
gi|37269066|gnl|dbEST|19929894|dbj| 883.1|

Nucleotide
BJ615760 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cD...
BJ615760 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cDNA clone XL174g12 5', mRNA sequence
gi|37250716|gnl|dbEST|19920771|dbj| 760.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001334548	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Mar 1, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001334548

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Mar 1, 2020)

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	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001334548.24

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	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		2	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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