NM_003242.5(TGFBR2):c.1570G>A (p.Asp524Asn) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 9, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000225734.1

Allele description

NM_003242.5(TGFBR2):c.1570G>A (p.Asp524Asn)

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.1570G>A (p.Asp524Asn)
HGVS:
  • NC_000003.12:g.30691465G>A
  • NG_007490.1:g.89964G>A
  • NM_001024847.2:c.1645G>A
  • NM_003242.5:c.1570G>A
  • NP_001020018.1:p.Asp549Asn
  • NP_003233.4:p.Asp524Asn
  • LRG_779t1:c.1645G>A
  • LRG_779:g.89964G>A
  • LRG_779p1:p.Asp549Asn
  • NC_000003.11:g.30732957G>A
Protein change:
D524N
Links:
dbSNP: rs727504421
NCBI 1000 Genomes Browser:
rs727504421
Molecular consequence:
  • NM_001024847.2:c.1645G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000250952GeneDxcriteria provided, single submitter
Pathogenic
(Apr 9, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000250952.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Asp524Asn (D524N) GAC>AAC: c.1570 G>A in exon 7 of the TGFBR2 gene (NM_003242.5)The D524N mutation in the TGFBR2 gene has been reported previously in two unrelated individuals with Loeys-Dietz syndrome (Loeys B et al., 2006; Yetman A et al., 2007). D524N results in a semi-conservative amino acid substitution at a position that is conserved across species. A mutation in this residue (D524Y) and mutations in nearby residues (W521R, D522N, P525R, A527T, A527V) in association with a TAAD-related, further supporting the functional importance of this residues and region of the protein. Furthermore, the D524N mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, D524N in the TGFBR2 gene is interpreted as a disease-causing mutation. This variant was found in TAADV2-1

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

Last Updated: Jul 21, 2018