NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg) AND Loeys-Dietz syndrome 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2017
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:: RCV000499370.10

Allele description [Variation Report for NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg)]

NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg)

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.1381T>C (p.Cys461Arg)

HGVS:

NC_000003.12:g.30674231T>C
NG_007490.1:g.72730T>C
NM_001024847.3:c.1456T>C
NM_001407126.1:c.1564T>C
NM_001407127.1:c.1489T>C
NM_001407128.1:c.1408T>C
NM_001407129.1:c.1384T>C
NM_001407130.1:c.1381T>C
NM_001407132.1:c.1276T>C
NM_001407133.1:c.1276T>C
NM_001407134.1:c.1276T>C
NM_001407135.1:c.1276T>C
NM_001407136.1:c.1276T>C
NM_001407137.1:c.1096T>C
NM_001407138.1:c.1021T>C
NM_003242.6:c.1381T>CMANE SELECT
NP_001020018.1:p.Cys486Arg
NP_001020018.1:p.Cys486Arg
NP_001394055.1:p.Cys522Arg
NP_001394056.1:p.Cys497Arg
NP_001394057.1:p.Cys470Arg
NP_001394058.1:p.Cys462Arg
NP_001394059.1:p.Cys461Arg
NP_001394061.1:p.Cys426Arg
NP_001394062.1:p.Cys426Arg
NP_001394063.1:p.Cys426Arg
NP_001394064.1:p.Cys426Arg
NP_001394065.1:p.Cys426Arg
NP_001394066.1:p.Cys366Arg
NP_001394067.1:p.Cys341Arg
NP_003233.4:p.Cys461Arg
NP_003233.4:p.Cys461Arg
LRG_779t1:c.1456T>C
LRG_779t2:c.1381T>C
LRG_779:g.72730T>C
LRG_779p1:p.Cys486Arg
LRG_779p2:p.Cys461Arg
NC_000003.11:g.30715723T>C
NM_001024847.2:c.1456T>C
NM_003242.5:c.1381T>C

Protein change:

C341R

Links:

dbSNP: rs1553630457

NCBI 1000 Genomes Browser:

rs1553630457

Molecular consequence:

NM_001024847.3:c.1456T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407126.1:c.1564T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407127.1:c.1489T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407128.1:c.1408T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407129.1:c.1384T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407130.1:c.1381T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407132.1:c.1276T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407133.1:c.1276T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407134.1:c.1276T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407135.1:c.1276T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407136.1:c.1276T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407137.1:c.1096T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407138.1:c.1021T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003242.6:c.1381T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Homo sapiens keratocan (KERA), mRNA
Homo sapiens keratocan (KERA), mRNA
gi|62865891|ref|NM_007035.3|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000536675	Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 1, 2017)	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 28344185

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000536675

Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 1, 2017)

de novo

clinical testing

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	de novo	yes	1	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

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

Valenzuela I, Fernández-Alvarez P, Munell F, Sanchez-Montanez A, Giralt G, Vendrell T, Tizzano EF.

Eur J Med Genet. 2017 Jun;60(6):303-307. doi: 10.1016/j.ejmg.2017.03.010. Epub 2017 Mar 24. Review.

PubMed [citation]

PMID:: 28344185

Details of each submission

From Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron, SCV000536675.1

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

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

Last Updated: Oct 13, 2024

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