NM_001165963.4(SCN1A):c.539T>G (p.Leu180Ter) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 1, 2016
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:: RCV000997288.16

Allele description [Variation Report for NM_001165963.4(SCN1A):c.539T>G (p.Leu180Ter)]

NM_001165963.4(SCN1A):c.539T>G (p.Leu180Ter)

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.539T>G (p.Leu180Ter)

HGVS:

NC_000002.12:g.166054701A>C
NG_011906.1:g.23939T>G
NM_001165963.4:c.539T>GMANE SELECT
NM_001165964.3:c.539T>G
NM_001202435.3:c.539T>G
NM_001353948.2:c.539T>G
NM_001353949.2:c.539T>G
NM_001353950.2:c.539T>G
NM_001353951.2:c.539T>G
NM_001353952.2:c.539T>G
NM_001353954.2:c.539T>G
NM_001353955.2:c.539T>G
NM_001353957.2:c.539T>G
NM_001353958.2:c.539T>G
NM_001353960.2:c.539T>G
NM_001353961.2:c.-1887T>G
NM_006920.6:c.539T>G
NP_001159435.1:p.Leu180Ter
NP_001159436.1:p.Leu180Ter
NP_001189364.1:p.Leu180Ter
NP_001340877.1:p.Leu180Ter
NP_001340878.1:p.Leu180Ter
NP_001340879.1:p.Leu180Ter
NP_001340880.1:p.Leu180Ter
NP_001340881.1:p.Leu180Ter
NP_001340883.1:p.Leu180Ter
NP_001340884.1:p.Leu180Ter
NP_001340886.1:p.Leu180Ter
NP_001340887.1:p.Leu180Ter
NP_001340889.1:p.Leu180Ter
NP_008851.3:p.Leu180Ter
LRG_8:g.23939T>G
NC_000002.11:g.166911211A>C
NC_000002.11:g.166911211A>C
NR_148667.2:n.925T>G

Protein change:

L180*

Links:

dbSNP: rs1574281711

NCBI 1000 Genomes Browser:

rs1574281711

Molecular consequence:

NM_001353961.2:c.-1887T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NR_148667.2:n.925T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001165963.4:c.539T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001165964.3:c.539T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001202435.3:c.539T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001353948.2:c.539T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001353949.2:c.539T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001353950.2:c.539T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001353951.2:c.539T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001353952.2:c.539T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001353954.2:c.539T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001353955.2:c.539T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001353957.2:c.539T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001353958.2:c.539T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001353960.2:c.539T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_006920.6:c.539T>G - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV001152523	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (May 1, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001152523

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Likely pathogenic
(May 1, 2016)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001152523.21

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

Last Updated: Apr 15, 2024

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