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NM_001199107.2(TBC1D24):c.1008del (p.His336fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 8, 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:
RCV002426639.3

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.1008del (p.His336fs)]

NM_001199107.2(TBC1D24):c.1008del (p.His336fs)

Gene:
TBC1D24:TBC1 domain family member 24 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001199107.2(TBC1D24):c.1008del (p.His336fs)
HGVS:
  • NC_000016.10:g.2498262del
  • NG_028170.1:g.28117del
  • NM_001199107.2:c.1008delMANE SELECT
  • NM_020705.3:c.990del
  • NP_001186036.1:p.His336fs
  • NP_065756.1:p.His330fs
  • NC_000016.9:g.2548263del
  • NM_001199107.1:c.1008del
  • NM_001199107.1:c.1008delT
  • NM_001199107.2:c.1008delTMANE SELECT
  • NP_001186036.1:p.His336Glnfs*12
  • p.H336QfsX12
Protein change:
H330fs
Links:
OMIM: 613577.0010; dbSNP: rs398122967
NCBI 1000 Genomes Browser:
rs398122967
Molecular consequence:
  • NM_001199107.2:c.1008del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_020705.3:c.990del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002731584Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 8, 2018) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.

Stražišar BG, Neubauer D, Paro Panjan D, Writzl K.

Eur J Paediatr Neurol. 2015 Mar;19(2):251-6. doi: 10.1016/j.ejpn.2014.12.011. Epub 2014 Dec 20.

PubMed [citation]
PMID:
25557349
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002731584.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The c.1008delT pathogenic mutation, located in coding exon 3 of the TBC1D24 gene, results from a deletion of one nucleotide at nucleotide position 1008, causing a translational frameshift with a predicted alternate stop codon (p.H336Qfs*12). In one study, this mutation was detected in two unrelated individuals with features of DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures) syndrome. Only one of these individuals carried a different TBC1D24 alteration on their second allele (Campeau PM et al. Lancet Neurol, 2014 Jan;13:44-58). In a different study, this alteration was reported in siblings with features of DOORS syndrome who both carried a second TBC1D24 alteration on their other allele (Straišar BG et al. Eur. J. Paediatr. Neurol., 2015 Mar;19:251-6). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2025