NM_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter) AND Loeys-Dietz syndrome 2

Clinical significance:Pathogenic (Last evaluated: Aug 24, 2006)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013344.24

Allele description [Variation Report for NM_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter)]

NM_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter)

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_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter)
Other names:
p.R495*:CGA>TGA
HGVS:
  • NC_000003.12:g.30688470C>T
  • NG_007490.1:g.86969C>T
  • NM_001024847.2:c.1558C>T
  • NM_003242.5:c.1483C>T
  • NP_001020018.1:p.Arg520Ter
  • NP_003233.4:p.Arg495Ter
  • LRG_779t1:c.1558C>T
  • LRG_779:g.86969C>T
  • LRG_779p1:p.Arg520Ter
  • NC_000003.11:g.30729962C>T
Protein change:
R495*; ARG495TER
Links:
OMIM: 190182.0019; dbSNP: 104893819
NCBI 1000 Genomes Browser:
rs104893819
Molecular consequence:
  • NM_001024847.2:c.1558C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Loeys-Dietz syndrome 2 (LDS2)
Synonyms:
Loeys-Dietz syndrome type 1B; MARFAN SYNDROME, TYPE II; Loeys-Dietz syndrome type 2B
Identifiers:
MedGen: C2674876; Orphanet: 558; OMIM: 610168

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033591OMIMno assertion criteria providedPathogenic
(Aug 24, 2006)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

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

Details of each submission

From OMIM, SCV000033591.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Loeys et al. (2006) pictured a patient with Loeys-Dietz syndrome (LDS2; 610168) who carried a heterozygous nonsense mutation, arg495 to stop (R495X), in the TGFBR2 gene. The man showed hypertelorism and bifid uvula. Immunostaining of aortic tissue revealed increased nuclear accumulation of phosphorylated Smad2 (601366) and levels of expression of connective-tissue growth factor (CTGF; 121009), both indicative of increased TGF-beta signaling.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 5, 2017