NM_003238.6(TGFB2):c.73A>C (p.Ser25Arg) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 12, 2020
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:: RCV002380505.2

Allele description [Variation Report for NM_003238.6(TGFB2):c.73A>C (p.Ser25Arg)]

NM_003238.6(TGFB2):c.73A>C (p.Ser25Arg)

Gene:

TGFB2:transforming growth factor beta 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_003238.6(TGFB2):c.73A>C (p.Ser25Arg)

HGVS:

NC_000001.11:g.218346774A>C
NG_027721.3:g.6440A>C
NM_001135599.4:c.73A>C
NM_003238.6:c.73A>CMANE SELECT
NP_001129071.1:p.Ser25Arg
NP_003229.1:p.Ser25Arg
NC_000001.10:g.218520116A>C
NG_027721.2:g.6441A>C
NM_003238.3:c.73A>C
NR_138148.2:n.1439A>C
NR_138149.2:n.1439A>C

Protein change:

S25R

Molecular consequence:

NM_001135599.4:c.73A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003238.6:c.73A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_138148.2:n.1439A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_138149.2:n.1439A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002673962	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 12, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002673962

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 12, 2020)

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, SCV002673962.2

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

Description

The p.S25R variant (also known as c.73A>C), located in coding exon 1 of the TGFB2 gene, results from an A to C substitution at nucleotide position 73. The serine at codon 25 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: May 1, 2024

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