NM_003238.6(TGFB2):c.28del (p.Phe9_Leu10insTer) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 14, 2019
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:: RCV002438050.2

Allele description [Variation Report for NM_003238.6(TGFB2):c.28del (p.Phe9_Leu10insTer)]

NM_003238.6(TGFB2):c.28del (p.Phe9_Leu10insTer)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_003238.6(TGFB2):c.28del (p.Phe9_Leu10insTer)

HGVS:

NC_000001.11:g.218346729del
NG_027721.3:g.6395del
NM_001135599.4:c.28del
NM_003238.6:c.28delMANE SELECT
NP_001129071.1:p.Phe9_Leu10insTer
NP_003229.1:p.Phe9_Leu10insTer
NC_000001.10:g.218520071del
NG_027721.2:g.6396del
NM_003238.3:c.28delC
NR_138148.2:n.1394del
NR_138149.2:n.1394del

Molecular consequence:

NR_138148.2:n.1394del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_138149.2:n.1394del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001135599.4:c.28del - nonsense - [Sequence Ontology: SO:0001587]
NM_003238.6:c.28del - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002746811	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Feb 14, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002746811

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Feb 14, 2019)

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, SCV002746811.2

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

Description

The c.28delC pathogenic mutation, located in coding exon 1 of the TGFB2 gene, results from a deletion of one nucleotide at nucleotide position 28, causing a translational frameshift with a predicted alternate stop codon (p.L10*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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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