NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln) AND not provided

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Aug 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002291735.11

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln)]

NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln)

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.680G>A (p.Arg227Gln)

HGVS:

NC_000016.10:g.2496828G>A
NG_028170.1:g.26683G>A
NM_001199107.2:c.680G>AMANE SELECT
NM_020705.3:c.680G>A
NP_001186036.1:p.Arg227Gln
NP_065756.1:p.Arg227Gln
NC_000016.9:g.2546829G>A
NM_001199107.1:c.680G>A

Protein change:

R227Q

Links:

dbSNP: rs756181906

NCBI 1000 Genomes Browser:

rs756181906

Molecular consequence:

NM_001199107.2:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020705.3:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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AAT1 Aortic aneurysm, familial thoracic 1 [Homo sapiens]
AAT1 Aortic aneurysm, familial thoracic 1 [Homo sapiens]
Gene ID:252842

Gene
252842[uid] AND (alive[prop]) (1)
Gene
Homo sapiens glycoprotein Ib platelet subunit beta (GP1BB), mRNA
Homo sapiens glycoprotein Ib platelet subunit beta (GP1BB), mRNA
gi|1732746191|ref|NM_000407.5|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002584482	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Oct 12, 2022)	germline	clinical testing	Citation Link,
SCV004033449	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Aug 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002584482

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Oct 12, 2022)

germline

clinical testing

Citation Link,

SCV004033449

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(Aug 1, 2023)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002584482.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28428906, 27281533, 32369273)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004033449.9

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

Description

TBC1D24: PM1, PM2, PM3, PM5

#	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		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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