NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 25, 2022
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:: RCV002315251.9

Allele description [Variation Report for NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser)]

NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser)

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.1138C>T (p.Pro380Ser)

HGVS:

NC_000014.9:g.75959288G>A
NG_011715.1:g.27462C>T
NM_001329939.2:c.1138C>T
NM_003239.5:c.1138C>TMANE SELECT
NP_001316868.1:p.Pro380Ser
NP_003230.1:p.Pro380Ser
LRG_399t1:c.1138C>T
LRG_399:g.27462C>T
NC_000014.8:g.76425631G>A
NM_003239.2:c.1138C>T

Protein change:

P380S

Links:

dbSNP: rs1555360033

NCBI 1000 Genomes Browser:

rs1555360033

Molecular consequence:

NM_001329939.2:c.1138C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003239.5:c.1138C>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000739729	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 25, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000739729

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 25, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000739729.5

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

Description

The p.P380S variant (also known as c.1138C>T), located in coding exon 7 of the TGFB3 gene, results from a C to T substitution at nucleotide position 1138. The proline at codon 380 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species; however, serine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be deleterious 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: Jul 29, 2024

ClinVar

Relating variation to medicine