NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) AND Generalized epilepsy with febrile seizures plus

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 18, 2011
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:: RCV000030434.10

Allele description [Variation Report for NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)]

NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)

Gene:

SCN1B:sodium voltage-gated channel beta subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

Preferred name:

NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)

Other names:

p.C121W:TGC>TGG

HGVS:

NC_000019.10:g.35033654C>G
NG_013359.1:g.7967C>G
NM_001037.5:c.363C>GMANE SELECT
NM_001321605.2:c.264C>G
NM_199037.5:c.363C>G
NP_001028.1:p.Cys121Trp
NP_001308534.1:p.Cys88Trp
NP_950238.1:p.Cys121Trp
LRG_420t1:c.363C>G
LRG_420:g.7967C>G
LRG_420p1:p.Cys121Trp
NC_000019.9:g.35524558C>G
NM_001037.3:c.363C>G
NM_001037.4:c.363C>G
NM_199037.3:c.363C>G
Q07699:p.Cys121Trp

Protein change:

C121W; CYS121TRP

Links:

UniProtKB: Q07699#VAR_010165; OMIM: 600235.0001; dbSNP: rs104894718

NCBI 1000 Genomes Browser:

rs104894718

Molecular consequence:

NM_001037.5:c.363C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321605.2:c.264C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_199037.5:c.363C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Generalized epilepsy with febrile seizures plus
Identifiers:: MONDO: MONDO:0018214; MedGen: C3502809; OMIM: PS604233

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000053103	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	pathogenic (Aug 18, 2011)	germline	curation	PubMed (4) [See all records that cite these PMIDs] 16205844, 17020904, 15710580, 20437590 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000053103

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

pathogenic
(Aug 18, 2011)

germline

curation

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	44	not provided	not provided	44	not provided	curation

Citations

PubMed

Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children.

Haider MZ, Habeeb Y, Al-Nakkas E, Al-Anzi H, Zaki M, Al-Tawari A, Al-Bloushi M.

J Biomed Sci. 2005 Oct;12(5):815-8. Epub 2005 Nov 9.

PubMed [citation]

PMID:: 16205844

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

Scheffer IE, Harkin LA, Grinton BE, Dibbens LM, Turner SJ, Zielinski MA, Xu R, Jackson G, Adams J, Connellan M, Petrou S, Wellard RM, Briellmann RS, Wallace RH, Mulley JC, Berkovic SF.

Brain. 2007 Jan;130(Pt 1):100-9. Epub 2006 Oct 4.

PubMed [citation]

PMID:: 17020904

See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053103.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	curation	PubMed (4)
2	not provided	14	not provided	not provided	curation	PubMed (4)
3	not provided	6	not provided	not provided	curation	PubMed (4)
4	not provided	6	not provided	not provided	curation	PubMed (4)
5	not provided	14	not provided	not provided	curation	PubMed (4)
6	not provided	1	not provided	not provided	curation	PubMed (4)

Description

"Pt dx: Epilepsy with febrile seizures; Author mentions the variant found in 3 out of 123 Kuwaiti pts , and states that the mutations not associated with manifestation of the idiopathic generalized epilepsy, however, the finding that the 3 pts also had febrile seizures is consistent with the other data entries in this section; Controls not tested": PubMed [ID: 16205844]
"Pt dx: Generalized epilepsy with febrile seizures; This is the second family with GEFS and this variant; Author mentions variant found in 14 pts in an Australian family , Proband 14 year old boy with history of FS , four unaffected family members also carry variant; so this variant does NOT segregate with disease, but the variant was not seen in Controls ( see PbGP for Wallace_1998 entry)": PubMed [ID: 15710580]
"Pt dx: GEFS including temporal lobe epilepsy; variant found in 6 individuals in this family and also found in Grandfather of the proband who has been commented as normal in the pedigree ( Discordant ), not seen in Controls ( see PbGP)": PubMed [ID: 17020904]
"Pt Dx: GEFS including temporal lobe epilepsy; This family has 6 affected members with variant, one individual III1 has the variant but is normal ( Discordant), not seen in Controls ( see PbGP)": PubMed [ID: 17020904]
"Pt dx: Generalized epilepsy with febrile seizures ; 14 affected with variant; 3 unaffected with variant; not found in normals (see pbGP).": PubMed [ID: 15710580]
"Pt dx: Febrile Seizures (FS); 1 pt with variant; normals not tested.": PubMed [ID: 20437590]

Description

Converted during submission to Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	3	not provided	not provided		3	not provided	not provided	not provided
2	germline	yes	14	not provided	not provided		14	not provided	not provided	not provided
3	germline	yes	6	not provided	not provided		6	not provided	not provided	not provided
4	germline	yes	6	not provided	not provided		6	not provided	not provided	not provided
5	germline	yes	14	not provided	not provided		14	not provided	not provided	not provided
6	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 26, 2024

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