NM_003242.5(TGFBR2):c.1346C>T (p.Ser449Phe) AND Loeys-Dietz syndrome 2

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2004)

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:
RCV000013330.26

Allele description [Variation Report for NM_003242.5(TGFBR2):c.1346C>T (p.Ser449Phe)]

NM_003242.5(TGFBR2):c.1346C>T (p.Ser449Phe)

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.1346C>T (p.Ser449Phe)
HGVS:
  • NC_000003.12:g.30674196C>T
  • NG_007490.1:g.72695C>T
  • NM_001024847.2:c.1421C>T
  • NM_003242.5:c.1346C>T
  • NP_001020018.1:p.Ser474Phe
  • NP_003233.4:p.Ser449Phe
  • LRG_779t1:c.1421C>T
  • LRG_779:g.72695C>T
  • LRG_779p1:p.Ser474Phe
  • NC_000003.11:g.30715688C>T
  • P37173:p.Ser449Phe
Protein change:
S449F; SER449PHE
Links:
UniProtKB: P37173#VAR_022358; OMIM: 190182.0006; dbSNP: 104893807
NCBI 1000 Genomes Browser:
rs104893807
Molecular consequence:
  • NM_001024847.2:c.1421C>T - 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
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
SCV000033577OMIMno assertion criteria providedPathogenic
(Aug 1, 2004)
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

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

Details of each submission

From OMIM, SCV000033577.4

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

Description

Mizuguchi et al. (2004) identified the heterozygous mutation 1346C-T in the TGFBR2 gene, resulting in the ser449-to-phe (S449F) amino acid substitution, in association with a phenotype identified as Marfan syndrome type 2 (see LDS2, 610168).

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

Last Updated: Sep 5, 2017