NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu) AND Familial infantile myoclonic epilepsy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 22, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000000067.13

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu)]

NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu)

Gene:

TBC1D24:TBC1 domain family member 24 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu)

HGVS:

NC_000016.10:g.2496899T>C
NG_028170.1:g.26754T>C
NM_001199107.2:c.751T>CMANE SELECT
NM_020705.3:c.751T>C
NP_001186036.1:p.Phe251Leu
NP_065756.1:p.Phe251Leu
NC_000016.9:g.2546900T>C
NM_001199107.1:c.751T>C
Q9ULP9:p.Phe251Leu

Protein change:

F251L; PHE251LEU

Links:

UniProtKB: Q9ULP9#VAR_064366; OMIM: 613577.0003; dbSNP: rs267607104

NCBI 1000 Genomes Browser:

rs267607104

Molecular consequence:

NM_001199107.2:c.751T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020705.3:c.751T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial infantile myoclonic epilepsy (FIME)
Synonyms:: Epilepsy, Myoclonic, Infantile
Identifiers:: MONDO: MONDO:0011506; MedGen: C0917800; Orphanet: 352582; OMIM: 605021

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000020210	OMIM	no assertion criteria provided	Pathogenic (Sep 10, 2010)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000211973	Division of Medical Genetics; Sainte-Justine Hospital	no assertion criteria provided	Pathogenic (Dec 22, 2014)	germline	literature only	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020210

OMIM

no assertion criteria provided

Pathogenic
(Sep 10, 2010)

germline

literature only

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

SCV000211973

Division of Medical Genetics; Sainte-Justine Hospital

no assertion criteria provided

Pathogenic
(Dec 22, 2014)

germline

literature only

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	literature only
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J.

Am J Hum Genet. 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001.

PubMed [citation]

PMID:: 20797691
PMCID:: PMC2933342

Details of each submission

From OMIM, SCV000020210.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In affected members of a consanguineous Arab family with infantile myoclonic epilepsy (FIME; 605021) and intellectual disability in some, Corbett et al. (2010) identified a homozygous 751T-C transition in exon 2 of the TBC1D24 gene, resulting in a phe251-to-leu (F251L) substitution within the TBC domain. The mutation occurred in a highly conserved residue and was not found in 210 ethnically matched control chromosomes. Overexpression of wildtype TBC1D24 in mouse E18.5 primary hippocampal neurons resulted in increased arborization, whereas overexpression of the F251L mutant was no different than control, consistent with a loss of function.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Division of Medical Genetics; Sainte-Justine Hospital, SCV000211973.1

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

Last Updated: Aug 4, 2024

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