NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 3, 2024
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:: RCV000189686.12

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000243332	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jul 3, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000243332

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jul 3, 2024)

germline

clinical testing

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	clinical testing

Details of each submission

From GeneDx, SCV000243332.13

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

Description

Published functional studies involving neuronal outgrowth assays of mouse cortical cells demonstrate a reduction in neurite length compared to wild-type (PMID: 27281533); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25169651, 24291220, 27281533, 28428906, 30579089, 31780880, 36147510, 31440721, 30335140)

#	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: Nov 10, 2024

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