NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Benign/Likely benign (5 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:: RCV000233588.30

Allele description [Variation Report for NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)]

NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)

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.1062C>T (p.Leu354=)

Other names:

p.L354L:CTC>CTT

HGVS:

NC_000003.12:g.30672245C>T
NG_007490.1:g.70744C>T
NM_001024847.3:c.1137C>T
NM_001407126.1:c.1245C>T
NM_001407127.1:c.1170C>T
NM_001407128.1:c.1089C>T
NM_001407129.1:c.1065C>T
NM_001407130.1:c.1062C>T
NM_001407132.1:c.957C>T
NM_001407133.1:c.957C>T
NM_001407134.1:c.957C>T
NM_001407135.1:c.957C>T
NM_001407136.1:c.957C>T
NM_001407137.1:c.777C>T
NM_001407138.1:c.702C>T
NM_001407139.1:c.530-16142C>T
NM_003242.6:c.1062C>TMANE SELECT
NP_001020018.1:p.Leu379=
NP_001020018.1:p.Leu379=
NP_001394055.1:p.Leu415=
NP_001394056.1:p.Leu390=
NP_001394057.1:p.Leu363=
NP_001394058.1:p.Leu355=
NP_001394059.1:p.Leu354=
NP_001394061.1:p.Leu319=
NP_001394062.1:p.Leu319=
NP_001394063.1:p.Leu319=
NP_001394064.1:p.Leu319=
NP_001394065.1:p.Leu319=
NP_001394066.1:p.Leu259=
NP_001394067.1:p.Leu234=
NP_003233.4:p.Leu354=
LRG_779t1:c.1137C>T
LRG_779t2:c.1062C>T
LRG_779:g.70744C>T
LRG_779p1:p.Leu379=
LRG_779p2:p.Leu354=
NC_000003.11:g.30713737C>T
NM_001024847.2:c.1137C>T
NM_003242.5:c.1062C>T
p.Leu354Leu

Links:

dbSNP: rs113194608

NCBI 1000 Genomes Browser:

rs113194608

Molecular consequence:

NM_001407139.1:c.530-16142C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001024847.3:c.1137C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407126.1:c.1245C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407127.1:c.1170C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407128.1:c.1089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407129.1:c.1065C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407130.1:c.1062C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407132.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407133.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407134.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407135.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407136.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407137.1:c.777C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407138.1:c.702C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_003242.6:c.1062C>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
SCV000287917	Labcorp Genetics (formerly Invitae), Labcorp	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]
SCV000442874	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV000782367	Center for Human Genetics, Inc, Center for Human Genetics, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Nov 1, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000901786	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Sep 20, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000910714	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Mar 8, 2018)	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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV000287917.9

#	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 Illumina Laboratory Services, Illumina, SCV000442874.2

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

#	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 Center for Human Genetics, Inc, Center for Human Genetics, Inc, SCV000782367.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000901786.1

#	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 Color Diagnostics, LLC DBA Color Health, SCV000910714.1

#	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

Last Updated: Nov 3, 2024

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