NM_003242.5(TGFBR2):c.1540T>C (p.Cys514Arg) AND Loeys-Dietz syndrome

Clinical significance:Likely pathogenic (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000030548.1

Allele description [Variation Report for NM_003242.5(TGFBR2):c.1540T>C (p.Cys514Arg)]

Gene:
TGFBR2:transforming growth factor, beta receptor II (70/80kDa) [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
3p24.1
Genomic location:
Preferred name:
NM_003242.5(TGFBR2):c.1540T>C (p.Cys514Arg)
HGVS:
  • NC_000003.12:g.30691435T>C
  • NG_007490.1:g.89934T>C
  • NM_001024847.2:c.1615T>C
  • NM_003242.5:c.1540T>C
  • NP_001020018.1:p.Cys539Arg
  • NP_003233.4:p.Cys514Arg
  • NC_000003.11:g.30732927T>C
Protein change:
C514R
Links:
dbSNP: 193922664
NCBI 1000 Genomes Browser:
rs193922664
Molecular consequence:
  • NM_001024847.2:c.1615T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Loeys-Dietz syndrome (LDS)
Identifiers:
MedGen: C2697932

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000053219LabCorpclassified by single submitterlikely pathogenic
(Aug 18, 2011)
germlineliterature only, clinical testingmissense mutation

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From LabCorp, SCV000053219.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature onlynot provided
2not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteFBN1:c.6997+17C>G, FBN1:c.1415G>A, FBN1:c.2433C>T, TGFBR2:c.455-4T>A, TGFBR2:c.263+7A>G1

Last Updated: Oct 16, 2014

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