NM_003242.6(TGFBR2):c.656T>A (p.Ile219Asn) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 15, 2021
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:: RCV001805495.3

Allele description [Variation Report for NM_003242.6(TGFBR2):c.656T>A (p.Ile219Asn)]

NM_003242.6(TGFBR2):c.656T>A (p.Ile219Asn)

Gene:

TGFBR2:transforming growth factor beta receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.1

Genomic location:

Preferred name:

NM_003242.6(TGFBR2):c.656T>A (p.Ile219Asn)

HGVS:

NC_000003.12:g.30671839T>A
NG_007490.1:g.70338T>A
NM_001024847.3:c.731T>A
NM_001407126.1:c.839T>A
NM_001407127.1:c.764T>A
NM_001407128.1:c.683T>A
NM_001407129.1:c.659T>A
NM_001407130.1:c.656T>A
NM_001407132.1:c.551T>A
NM_001407133.1:c.551T>A
NM_001407134.1:c.551T>A
NM_001407135.1:c.551T>A
NM_001407136.1:c.551T>A
NM_001407137.1:c.371T>A
NM_001407138.1:c.296T>A
NM_003242.6:c.656T>AMANE SELECT
NP_001020018.1:p.Ile244Asn
NP_001020018.1:p.Ile244Asn
NP_001394055.1:p.Ile280Asn
NP_001394056.1:p.Ile255Asn
NP_001394057.1:p.Ile228Asn
NP_001394058.1:p.Ile220Asn
NP_001394059.1:p.Ile219Asn
NP_001394061.1:p.Ile184Asn
NP_001394062.1:p.Ile184Asn
NP_001394063.1:p.Ile184Asn
NP_001394064.1:p.Ile184Asn
NP_001394065.1:p.Ile184Asn
NP_001394066.1:p.Ile124Asn
NP_001394067.1:p.Ile99Asn
NP_003233.4:p.Ile219Asn
LRG_779t1:c.731T>A
LRG_779t2:c.656T>A
LRG_779:g.70338T>A
LRG_779p1:p.Ile244Asn
LRG_779p2:p.Ile219Asn
NC_000003.11:g.30713331T>A
NM_001024847.2:c.731T>A
NM_003242.5:c.656T>A

Protein change:

I124N

Links:

dbSNP: rs2125433876

NCBI 1000 Genomes Browser:

rs2125433876

Molecular consequence:

NM_001024847.3:c.731T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407126.1:c.839T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407127.1:c.764T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407128.1:c.683T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407129.1:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407130.1:c.656T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407132.1:c.551T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407133.1:c.551T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407134.1:c.551T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407135.1:c.551T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407136.1:c.551T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407137.1:c.371T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407138.1:c.296T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003242.6:c.656T>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002053064	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 15, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002053064

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 15, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV002053064.1

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

Description

This missense variant replaces isoleucine with asparagine at codon 219 of the TGFBR2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	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: Dec 24, 2023

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