NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) AND not specified

Germline classification:: Benign/Likely benign (5 submissions)
Last evaluated:: Jan 14, 2019
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:: RCV000152008.27

Allele description [Variation Report for NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)]

NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)

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.1119G>A (p.Met373Ile)

HGVS:

NC_000003.12:g.30672302G>A
NG_007490.1:g.70801G>A
NM_001024847.3:c.1194G>A
NM_001407126.1:c.1302G>A
NM_001407127.1:c.1227G>A
NM_001407128.1:c.1146G>A
NM_001407129.1:c.1122G>A
NM_001407130.1:c.1119G>A
NM_001407132.1:c.1014G>A
NM_001407133.1:c.1014G>A
NM_001407134.1:c.1014G>A
NM_001407135.1:c.1014G>A
NM_001407136.1:c.1014G>A
NM_001407137.1:c.834G>A
NM_001407138.1:c.759G>A
NM_003242.6:c.1119G>AMANE SELECT
NP_001020018.1:p.Met398Ile
NP_001020018.1:p.Met398Ile
NP_001394055.1:p.Met434Ile
NP_001394056.1:p.Met409Ile
NP_001394057.1:p.Met382Ile
NP_001394058.1:p.Met374Ile
NP_001394059.1:p.Met373Ile
NP_001394061.1:p.Met338Ile
NP_001394062.1:p.Met338Ile
NP_001394063.1:p.Met338Ile
NP_001394064.1:p.Met338Ile
NP_001394065.1:p.Met338Ile
NP_001394066.1:p.Met278Ile
NP_001394067.1:p.Met253Ile
NP_003233.4:p.Met373Ile
LRG_779t1:c.1194G>A
LRG_779t2:c.1119G>A
LRG_779:g.70801G>A
LRG_779p1:p.Met398Ile
LRG_779p2:p.Met373Ile
NC_000003.11:g.30713794G>A
NM_001024847.2:c.1194G>A
NM_003242.5:c.1119G>A
P37173:p.Met373Ile

Protein change:

M253I

Links:

UniProtKB: P37173#VAR_041416; dbSNP: rs35719192

NCBI 1000 Genomes Browser:

rs35719192

Molecular consequence:

NM_001024847.3:c.1194G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407126.1:c.1302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407127.1:c.1227G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407128.1:c.1146G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407129.1:c.1122G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407130.1:c.1119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407132.1:c.1014G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407133.1:c.1014G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407134.1:c.1014G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407135.1:c.1014G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407136.1:c.1014G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407137.1:c.834G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407138.1:c.759G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003242.6:c.1119G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000200573	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Jun 15, 2011)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 9395234, 16928994, 17344846, 18781618, 24033266
SCV000309515	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000705827	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Feb 6, 2017)	germline	clinical testing	Citation Link,
SCV001433239	Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jan 14, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001548960	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Benign	unknown	clinical testing

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	not provided	4	3	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutation and downregulation of the transforming growth factor beta type II receptor gene in primary squamous cell carcinomas of the head and neck.

Wang D, Song H, Evans JA, Lang JC, Schuller DE, Weghorst CM.

Carcinogenesis. 1997 Nov;18(11):2285-90.

PubMed [citation]

PMID:: 9395234

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC.

N Engl J Med. 2006 Aug 24;355(8):788-98.

PubMed [citation]

PMID:: 16928994

See all PubMed Citations (6)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000200573.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	PubMed (5)

Description

This variant has previously been reported in the literature in an individual wit h clinical features of Loeys-Dietz syndrome; however, the variant was also found in 1/200 control chromosomes (Loeys 2006) and in the reportedly unaffected pare nt of a proband in our laboratory. In addition, this residue is not highly conse rved through different species, which raises the possibility that amino acid cha nges at this position may be tolerated. Therefore, this variant is likely to be benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		4	not provided	3	not provided

From PreventionGenetics, part of Exact Sciences, SCV000309515.1

#	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 Eurofins Ntd Llc (ga), SCV000705827.2

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

From Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute, SCV001433239.1

#	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 Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001548960.1

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

Description

LB/B > 4 on ClinVar or LB/B > 2 Rep

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 20, 2024

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