NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 16, 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:: RCV002371919.9

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)]

NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)

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.724C>T (p.Arg242Cys)

Other names:

p.R242C:CGC>TGC

HGVS:

NC_000016.10:g.2496872C>T
NG_028170.1:g.26727C>T
NM_001199107.1:c.[724C>T]
NM_001199107.2:c.724C>TMANE SELECT
NM_020705.3:c.724C>T
NP_001186036.1:p.Arg242Cys
NP_001186036.1:p.Arg242Cys
NP_065756.1:p.Arg242Cys
NC_000016.9:g.2546873C>T
NM_001199107.1:c.724C>T
NM_001199107.1:c.[724C>T]
NM_001199107.2:c.724C>T
NM_020705.2:c.724C>T
Q9ULP9:p.Arg242Cys

Protein change:

R242C; ARG242CYS

Links:

UniProtKB: Q9ULP9#VAR_070915; OMIM: 613577.0007; dbSNP: rs398122965

NCBI 1000 Genomes Browser:

rs398122965

Molecular consequence:

NM_001199107.2:c.724C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_020705.3:c.724C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002671963	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Nov 16, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24291220, 27281533, 30335140 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002671963

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Nov 16, 2018)

germline

clinical testing

PubMed (3)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The genetic basis of DOORS syndrome: an exome-sequencing study.

Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, et al.

Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29.

PubMed [citation]

PMID:: 24291220
PMCID:: PMC3895324

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, et al.

Neurology. 2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8.

PubMed [citation]

PMID:: 27281533
PMCID:: PMC4932231

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002671963.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The p.R242C pathogenic mutation (also known as c.724C>T), located in coding exon 1 of the TBC1D24 gene, results from a C to T substitution at nucleotide position 724. The arginine at codon 242 is replaced by cysteine, an amino acid with highly dissimilar properties. This mutation was identified in the homozgous and compound heterozygous states in multiple individuals with DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome) (Campeau PM et al. Lancet Neurol, 2014 Jan;13:44-58). Two cell lines expressing this mutation demonstrated shorter neurite length compared to wild type (Balestrini S et al. Neurology, 2016 Jul;87:77-85; Finelli MJ et al. Hum. Mol. Genet., 2018 Oct; doi.org/10.1093/hmg/ddy370). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 8, 2024

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