NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 13, 2021
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:: RCV000623272.6

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)]

NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)

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.845C>G (p.Pro282Arg)

Other names:

p.P282R:CCT>CGT

HGVS:

NC_000016.10:g.2496993C>G
NG_028170.1:g.26848C>G
NM_001199107.2:c.845C>GMANE SELECT
NM_020705.3:c.845C>G
NP_001186036.1:p.Pro282Arg
NP_065756.1:p.Pro282Arg
NC_000016.9:g.2546994C>G
NM_001199107.1:c.845C>G
NM_020705.2:c.845C>G
p.Pro282Arg

Protein change:

P282R

Links:

dbSNP: rs747538224

NCBI 1000 Genomes Browser:

rs747538224

Molecular consequence:

NM_001199107.2:c.845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020705.3:c.845C>G - 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
SCV000741949	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely pathogenic (Jul 13, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 27281533, 27502353, 29100083 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741949

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely pathogenic
(Jul 13, 2021)

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

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

Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.

Appavu B, Guido-Estrada N, Lindstrom K, Grebe T, Kerrigan JF, Troester M.

Epileptic Disord. 2016 Sep 1;18(3):324-8. doi: 10.1684/epd.2016.0849.

PubMed [citation]

PMID:: 27502353

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000741949.5

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

Description

The c.845C>G (p.P282R) alteration is located in exon 2 (coding exon 1) of the TBC1D24 gene. This alteration results from a C to G substitution at nucleotide position 845, causing the proline (P) at amino acid position 282 to be replaced by an arginine (R). Based on data from the Genome Aggregation Database (gnomAD), the TBC1D24 c.845C>G alteration was observed in 0.02% (46/280780) of total alleles studied, with a frequency of 0.13% (45/35374) in the Latino subpopulation. This variant has been reported in the compound heterozygous state in three individuals with epilepsy (Appavu, 2016; Balestrini, 2016; Hamdan, 2017). The in silico prediction for the p.P282R alteration is inconclusive. Based on the available evidence, this alteration is classified as likely pathogenic.

#	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: Sep 29, 2024

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