NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Benign (2 submissions)
Last evaluated:: Feb 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000249482.12

Allele description [Variation Report for NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)]

NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)

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.1167C>T (p.Asn389=)

Other names:

p.N389N:AAC>AAT

HGVS:

NC_000003.12:g.30672350C>T
NG_007490.1:g.70849C>T
NM_001024847.3:c.1242C>T
NM_001407126.1:c.1350C>T
NM_001407127.1:c.1275C>T
NM_001407128.1:c.1194C>T
NM_001407129.1:c.1170C>T
NM_001407130.1:c.1167C>T
NM_001407132.1:c.1062C>T
NM_001407133.1:c.1062C>T
NM_001407134.1:c.1062C>T
NM_001407135.1:c.1062C>T
NM_001407136.1:c.1062C>T
NM_001407137.1:c.882C>T
NM_001407138.1:c.807C>T
NM_001407139.1:c.530-16037C>T
NM_003242.6:c.1167C>TMANE SELECT
NP_001020018.1:p.Asn414=
NP_001020018.1:p.Asn414=
NP_001394055.1:p.Asn450=
NP_001394056.1:p.Asn425=
NP_001394057.1:p.Asn398=
NP_001394058.1:p.Asn390=
NP_001394059.1:p.Asn389=
NP_001394061.1:p.Asn354=
NP_001394062.1:p.Asn354=
NP_001394063.1:p.Asn354=
NP_001394064.1:p.Asn354=
NP_001394065.1:p.Asn354=
NP_001394066.1:p.Asn294=
NP_001394067.1:p.Asn269=
NP_003233.4:p.Asn389=
LRG_779t1:c.1242C>T
LRG_779t2:c.1167C>T
LRG_779:g.70849C>T
LRG_779p1:p.Asn414=
LRG_779p2:p.Asn389=
NC_000003.11:g.30713842C>T
NM_001024847.2:c.1242C>T
NM_003242.5:c.1167C>T
c.1167C>T
p.Asn389Asn

Links:

dbSNP: rs2228048

NCBI 1000 Genomes Browser:

rs2228048

Molecular consequence:

NM_001407139.1:c.530-16037C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001024847.3:c.1242C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407126.1:c.1350C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407127.1:c.1275C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407128.1:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407129.1:c.1170C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407130.1:c.1167C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407132.1:c.1062C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407133.1:c.1062C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407134.1:c.1062C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407135.1:c.1062C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407136.1:c.1062C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407137.1:c.882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407138.1:c.807C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_003242.6:c.1167C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000910549	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Mar 15, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001721973	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	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

SCV000910549

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Mar 15, 2018)

germline

clinical testing

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

SCV001721973

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 1, 2024)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000910549.1

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

#	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

From Invitae, SCV001721973.3

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

#	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: Mar 10, 2024

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