NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro) AND Loeys-Dietz syndrome 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2010
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000013329.26

Allele description [Variation Report for NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro)]

NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro)

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.923T>C (p.Leu308Pro)

HGVS:

NC_000003.12:g.30672106T>C
NG_007490.1:g.70605T>C
NM_001024847.3:c.998T>C
NM_001407126.1:c.1106T>C
NM_001407127.1:c.1031T>C
NM_001407128.1:c.950T>C
NM_001407129.1:c.926T>C
NM_001407130.1:c.923T>C
NM_001407132.1:c.818T>C
NM_001407133.1:c.818T>C
NM_001407134.1:c.818T>C
NM_001407135.1:c.818T>C
NM_001407136.1:c.818T>C
NM_001407137.1:c.638T>C
NM_001407138.1:c.563T>C
NM_003242.6:c.923T>CMANE SELECT
NP_001020018.1:p.Leu333Pro
NP_001020018.1:p.Leu333Pro
NP_001394055.1:p.Leu369Pro
NP_001394056.1:p.Leu344Pro
NP_001394057.1:p.Leu317Pro
NP_001394058.1:p.Leu309Pro
NP_001394059.1:p.Leu308Pro
NP_001394061.1:p.Leu273Pro
NP_001394062.1:p.Leu273Pro
NP_001394063.1:p.Leu273Pro
NP_001394064.1:p.Leu273Pro
NP_001394065.1:p.Leu273Pro
NP_001394066.1:p.Leu213Pro
NP_001394067.1:p.Leu188Pro
NP_003233.4:p.Leu308Pro
LRG_779t1:c.998T>C
LRG_779t2:c.923T>C
LRG_779:g.70605T>C
LRG_779p1:p.Leu333Pro
LRG_779p2:p.Leu308Pro
NC_000003.11:g.30713598T>C
NM_001024847.2:c.998T>C
P37173:p.Leu308Pro

Protein change:

L188P; LEU308PRO

Links:

UniProtKB: P37173#VAR_022351; OMIM: 190182.0005; dbSNP: rs28934568

NCBI 1000 Genomes Browser:

rs28934568

Molecular consequence:

NM_001024847.3:c.998T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407126.1:c.1106T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407127.1:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407128.1:c.950T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407129.1:c.926T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407130.1:c.923T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407132.1:c.818T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407133.1:c.818T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407134.1:c.818T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407135.1:c.818T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407136.1:c.818T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407137.1:c.638T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407138.1:c.563T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003242.6:c.923T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Loeys-Dietz syndrome 2 (LDS2)
Synonyms:: Loeys-Dietz syndrome type 1B; MARFAN SYNDROME, TYPE II; Loeys-Dietz syndrome type 2B; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012427; MedGen: C2674574; Orphanet: 558; OMIM: 610168

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033575	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2010)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 15235604, 20358619

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033575

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2010)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Heterozygous TGFBR2 mutations in Marfan syndrome.

Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, et al.

Nat Genet. 2004 Aug;36(8):855-60. Epub 2004 Jul 4.

PubMed [citation]

PMID:: 15235604
PMCID:: PMC2230615

Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.

Kirmani S, Tebben PJ, Lteif AN, Gordon D, Clarke BL, Hefferan TE, Yaszemski MJ, McGrann PS, Lindor NM, Ellison JW.

Am J Med Genet A. 2010 Apr;152A(4):1016-9. doi: 10.1002/ajmg.a.33356.

PubMed [citation]

PMID:: 20358619

Details of each submission

From OMIM, SCV000033575.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Mizuguchi et al. (2004) identified the mutation 923T-C in the TGFBR2 gene, resulting in the amino acid substitution leu308-to-pro (L308P), associated with a phenotype identified as Marfan syndrome type 2 (see LDS2, 610168).

In a 17-year-old male patient with Loeys-Dietz syndrome with craniofacial involvement who had a significant history of low bone mineral density and multiple low-impact fractures, Kirmani et al. (2010) identified heterozygosity for the L308P mutation in the TGFBR2 gene.

#	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		not provided	not provided	not provided	not provided

Last Updated: Feb 25, 2023

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