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NM_003239.5(TGFB3):c.698A>T (p.Gln233Leu) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 15, 2015
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:
RCV002310948.9

Allele description [Variation Report for NM_003239.5(TGFB3):c.698A>T (p.Gln233Leu)]

NM_003239.5(TGFB3):c.698A>T (p.Gln233Leu)

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.698A>T (p.Gln233Leu)
HGVS:
  • NC_000014.9:g.75965644T>A
  • NG_011715.1:g.21106A>T
  • NM_001329938.2:c.698A>T
  • NM_001329939.2:c.698A>T
  • NM_003239.5:c.698A>TMANE SELECT
  • NP_001316867.1:p.Gln233Leu
  • NP_001316868.1:p.Gln233Leu
  • NP_003230.1:p.Gln233Leu
  • LRG_399t1:c.698A>T
  • LRG_399:g.21106A>T
  • NC_000014.8:g.76431987T>A
  • NM_003239.2:c.698A>T
Protein change:
Q233L
Links:
dbSNP: rs1349938834
NCBI 1000 Genomes Browser:
rs1349938834
Molecular consequence:
  • NM_001329938.2:c.698A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329939.2:c.698A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003239.5:c.698A>T - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000319602Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 15, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000319602.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.Q233L variant (also known as c.698A>T), located in coding exon 4 of the TGFB3 gene, results from an A to T substitution at nucleotide position 698. The glutamine at codon 233 is replaced by leucine, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6,503 samples (13,006 alleles) with coverage at this position. This amino acid position is conserved in available vertebrate species through reptiles. 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 variant remains unclear.

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

Last Updated: Aug 25, 2024