NM_004612.2(TGFBR1):c.599C>T (p.Thr200Ile) AND Loeys-Dietz syndrome 1

Clinical significance:Pathogenic (Last evaluated: Apr 22, 2014)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013347.23

Allele description [Variation Report for NM_004612.2(TGFBR1):c.599C>T (p.Thr200Ile)]

Gene:
TGFBR1:transforming growth factor, beta receptor 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.33
Genomic location:
Preferred name:
NM_004612.2(TGFBR1):c.599C>T (p.Thr200Ile)
HGVS:
  • NC_000009.12:g.99137883C>T
  • NG_007461.1:g.37754C>T
  • NM_004612.2:c.599C>T
  • NP_004603.1:p.Thr200Ile
  • NC_000009.11:g.101900165C>T
Protein change:
T200I; THR200ILE
Links:
OMIM: 190181.0003; dbSNP: 121918712
NCBI 1000 Genomes Browser:
rs121918712
Molecular consequence:
  • NM_004612.2:c.599C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Loeys-Dietz syndrome 1 (LDS1)
Synonyms:
Loeys-Dietz syndrome type 1A; Furlong syndrome; Aortic aneurysm syndrome, Loeys-Dietz type; See all synonyms [MedGen]
Identifiers:
MedGen: C2697933; Orphanet: 60030; OMIM: 608967; OMIM: 609192
Age of onset:
Neonatal/infancy
Prevalence:
<1 / 1 000 000 60030

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000033594OMIMPathogenic
(Apr 22, 2014)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only, literature only

Citations

PubMed

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, et al.

Nat Genet. 2005 Mar;37(3):275-81. Epub 2005 Jan 30.

PubMed [citation]
PMID:
15731757

Details of each submission

From OMIM, SCV000033594.3

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family with Loeys-Dietz syndrome (LDS1; 609192), Loeys et al. (2005) identified a 599C-T transition in exon 4 of the TGFBR1 gene that resulted in a thr200-to-ile (T200I) substitution at the junction of the glycine-serine-rich domain and the kinase domain of the TGFBR1 protein. The mutation occurred de novo.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2014

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