NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met) AND TBC1D24-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 10, 2024
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:: RCV004739683.1

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met)]

NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met)

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.232G>A (p.Val78Met)

HGVS:

NC_000016.10:g.2496380G>A
NG_028170.1:g.26235G>A
NM_001199107.2:c.232G>AMANE SELECT
NM_020705.3:c.232G>A
NP_001186036.1:p.Val78Met
NP_065756.1:p.Val78Met
NC_000016.9:g.2546381G>A
NM_001199107.1:c.232G>A
NM_020705.2:c.232G>A

Protein change:

V78M

Links:

dbSNP: rs776539630

NCBI 1000 Genomes Browser:

rs776539630

Molecular consequence:

NM_001199107.2:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020705.3:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: TBC1D24-related disorder
Synonyms:: TBC1D24-Related Disorders; TBC1D24-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005361470	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Jun 10, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005361470

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Jun 10, 2024)

germline

clinical testing

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005361470.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The TBC1D24 c.232G>A variant is predicted to result in the amino acid substitution p.Val78Met. This variant has been reported in addition to another variant in this gene in an individual with epilepsy (Zhang et al. 2018. PubMed ID: 30180405). This variant is reported in 0.0098% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	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: Jan 13, 2025

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