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NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) AND Loeys-Dietz syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 27, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000415679.2

Allele description [Variation Report for NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)]

NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)

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.1015C>T (p.Arg339Trp)
HGVS:
  • NC_000003.12:g.30672198C>T
  • NG_007490.1:g.70697C>T
  • NM_001024847.3:c.1090C>T
  • NM_001407126.1:c.1198C>T
  • NM_001407127.1:c.1123C>T
  • NM_001407128.1:c.1042C>T
  • NM_001407129.1:c.1018C>T
  • NM_001407130.1:c.1015C>T
  • NM_001407132.1:c.910C>T
  • NM_001407133.1:c.910C>T
  • NM_001407134.1:c.910C>T
  • NM_001407135.1:c.910C>T
  • NM_001407136.1:c.910C>T
  • NM_001407137.1:c.730C>T
  • NM_001407138.1:c.655C>T
  • NM_003242.6:c.1015C>TMANE SELECT
  • NP_001020018.1:p.Arg364Trp
  • NP_001020018.1:p.Arg364Trp
  • NP_001394055.1:p.Arg400Trp
  • NP_001394056.1:p.Arg375Trp
  • NP_001394057.1:p.Arg348Trp
  • NP_001394058.1:p.Arg340Trp
  • NP_001394059.1:p.Arg339Trp
  • NP_001394061.1:p.Arg304Trp
  • NP_001394062.1:p.Arg304Trp
  • NP_001394063.1:p.Arg304Trp
  • NP_001394064.1:p.Arg304Trp
  • NP_001394065.1:p.Arg304Trp
  • NP_001394066.1:p.Arg244Trp
  • NP_001394067.1:p.Arg219Trp
  • NP_003233.4:p.Arg339Trp
  • LRG_779t1:c.1090C>T
  • LRG_779t2:c.1015C>T
  • LRG_779:g.70697C>T
  • LRG_779p1:p.Arg364Trp
  • LRG_779p2:p.Arg339Trp
  • NC_000003.11:g.30713690C>T
  • NM_001024847.2:c.1090C>T
  • NM_003242.5:c.1015C>T
Protein change:
R219W
Links:
dbSNP: rs761991787
NCBI 1000 Genomes Browser:
rs761991787
Molecular consequence:
  • NM_001024847.3:c.1090C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407126.1:c.1198C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407127.1:c.1123C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407128.1:c.1042C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407129.1:c.1018C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407130.1:c.1015C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407132.1:c.910C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407133.1:c.910C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407134.1:c.910C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407135.1:c.910C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407136.1:c.910C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407137.1:c.730C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407138.1:c.655C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003242.6:c.1015C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Loeys-Dietz syndrome (LDS)
Identifiers:
MONDO: MONDO:0018954; MedGen: C2697932; OMIM: PS609192

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000493810Knight Diagnostic Laboratories, Oregon Health and Sciences University - CSER-NextGen
no assertion criteria provided

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 27, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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

Details of each submission

From Knight Diagnostic Laboratories, Oregon Health and Sciences University - CSER-NextGen, SCV000493810.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024