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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000736952Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 5, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024