NM_001165963.4(SCN1A):c.3686T>C (p.Leu1229Pro) AND Generalized epilepsy with febrile seizures plus, type 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 25, 2018
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:: RCV001253246.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.3686T>C (p.Leu1229Pro)]

NM_001165963.4(SCN1A):c.3686T>C (p.Leu1229Pro)

Genes:

SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001165963.4(SCN1A):c.3686T>C (p.Leu1229Pro)

HGVS:

NC_000002.12:g.166013763A>G
NG_011906.1:g.64877T>C
NM_001165963.4:c.3686T>CMANE SELECT
NM_001165964.3:c.3602T>C
NM_001202435.3:c.3686T>C
NM_001353948.2:c.3686T>C
NM_001353949.2:c.3653T>C
NM_001353950.2:c.3653T>C
NM_001353951.2:c.3653T>C
NM_001353952.2:c.3653T>C
NM_001353954.2:c.3650T>C
NM_001353955.2:c.3650T>C
NM_001353957.2:c.3602T>C
NM_001353958.2:c.3602T>C
NM_001353960.2:c.3599T>C
NM_001353961.2:c.1244T>C
NM_006920.6:c.3653T>C
NP_001159435.1:p.Leu1229Pro
NP_001159436.1:p.Leu1201Pro
NP_001189364.1:p.Leu1229Pro
NP_001340877.1:p.Leu1229Pro
NP_001340878.1:p.Leu1218Pro
NP_001340879.1:p.Leu1218Pro
NP_001340880.1:p.Leu1218Pro
NP_001340881.1:p.Leu1218Pro
NP_001340883.1:p.Leu1217Pro
NP_001340884.1:p.Leu1217Pro
NP_001340886.1:p.Leu1201Pro
NP_001340887.1:p.Leu1201Pro
NP_001340889.1:p.Leu1200Pro
NP_001340890.1:p.Leu415Pro
NP_008851.3:p.Leu1218Pro
LRG_8:g.64877T>C
NC_000002.11:g.166870273A>G
NM_001165963.1:c.3686T>C
NR_148667.2:n.4039T>C

Protein change:

L1200P

Links:

dbSNP: rs1692861040

NCBI 1000 Genomes Browser:

rs1692861040

Molecular consequence:

NM_001165963.4:c.3686T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001165964.3:c.3602T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001202435.3:c.3686T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353948.2:c.3686T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353949.2:c.3653T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353950.2:c.3653T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353951.2:c.3653T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353952.2:c.3653T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353954.2:c.3650T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353955.2:c.3650T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353957.2:c.3602T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353958.2:c.3602T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353960.2:c.3599T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353961.2:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006920.6:c.3653T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_148667.2:n.4039T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2)
Synonyms:: GEFS+, TYPE 2
Identifiers:: MONDO: MONDO:0011461; MedGen: C1858673; Orphanet: 36387; OMIM: 604403

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001428866	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 25, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001428866

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 25, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001428866.1

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

#	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 23, 2022

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