NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 5, 2023
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:: RCV002311772.10

Allele description [Variation Report for NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser)]

NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser)

Gene:

TGFB3:transforming growth factor beta 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser)

HGVS:

NC_000014.9:g.75980797C>T
NG_011715.1:g.5953G>A
NG_031957.1:g.45C>T
NM_001329938.2:c.97G>A
NM_001329939.2:c.97G>A
NM_003239.5:c.97G>AMANE SELECT
NP_001316867.1:p.Gly33Ser
NP_001316868.1:p.Gly33Ser
NP_003230.1:p.Gly33Ser
LRG_399t1:c.97G>A
LRG_399:g.5953G>A
NC_000014.8:g.76447140C>T
NM_003239.2:c.97G>A
NM_003239.3:c.97G>A

Protein change:

G33S

Links:

dbSNP: rs781353815

NCBI 1000 Genomes Browser:

rs781353815

Molecular consequence:

NM_001329938.2:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001329939.2:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003239.5:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:: Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:: MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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HLA-DMA major histocompatibility complex, class II, DM alpha [Homo sapiens]
HLA-DMA major histocompatibility complex, class II, DM alpha [Homo sapiens]
Gene ID:3108

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000736952	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 5, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 28166282, 29247119 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000736952

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 5, 2023)

germline

clinical testing

PubMed (2)
[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

Correction: Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Sanchez O, Campuzano O, Fernández-Falgueras A, Sarquella-Brugada G, Cesar S, Mademont I, Mates J, Pérez-Serra A, Coll M, Pico F, Iglesias A, Tirón C, Allegue C, Carro E, Gallego MÁ, Ferrer-Costa C, Hospital A, Bardalet N, Borondo JC, Vingut A, Arbelo E, Brugada J, et al.

PLoS One. 2017;12(2):e0171893. doi: 10.1371/journal.pone.0171893.

PubMed [citation]

PMID:: 28166282
PMCID:: PMC5293246

Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths.

Lin Y, Williams N, Wang D, Coetzee W, Zhou B, Eng LS, Um SY, Bao R, Devinsky O, McDonald TV, Sampson BA, Tang Y.

Circ Cardiovasc Genet. 2017 Dec;10(6). doi:pii: e001839. 10.1161/CIRCGENETICS.117.001839.

PubMed [citation]

PMID:: 29247119

Details of each submission

From Ambry Genetics, SCV000736952.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The p.G33S variant (also known as c.97G>A), located in coding exon 1 of the TGFB3 gene, results from a G to A substitution at nucleotide position 97. The glycine at codon 33 is replaced by serine, an amino acid with similar properties. This alteration has been reported in sudden unexplained death cohorts; however, clinical details were limited (Sanchez O et al. PLoS ONE, 2017 Feb;12:e0171893; Lin Y et al. Circ Cardiovasc Genet, 2017 Dec;10:[Epub ahead of print]). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Nov 3, 2024

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