EDNRB W276C - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

EDNRB W276C

(EDNRB Trp276Cys)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr13:78475316: 0.0% (1/10756) in EVS
  • Frequency shown in summary reports: 0.0% (1/10756)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the EDNRB gene
    Hirschsprung Disease
    Waardenburg Syndrome Type IV
    EDNRB-Related Hirschsprung Disease
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EDNRB
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (58 hits -- see all)
  • doi:10.1086/302329
    For the RET, EDNRB, and EDN3 genes, primer sequences and PCR-SSCP ... a founder homozygous W276C EDNRB mutation has. been found in association with a specific ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Medline ® Abstract for Reference of 'Etiology and evaluation ...
    UpToDate, electronic clinical resource tool for physicians and patients that provides information on Adult Primary Care and Internal Medicine, Allergy and ...
    uptodate.com/patients/content/abstract.do?...&refNum=18
  • Heterozygous endothelin receptor B ( EDNRB) mutations in ...
    The EDNRB gene encodes a 442 amino acid heptahelical receptor ... with the observation that the W276C EDNRB. mutation was neither necessary nor sufficient ...
    hmg.oxfordjournals.org/cgi/reprint/5/3/355.pdf
  • A missense mutation of the endothelin-B receptor gene in ...
    The mutant W276C receptor exhibited a partial impairment of ligand-induced Ca2+ ... is dosage sensitive, in that W276C homozygotes and heterozygotes have a 74 ...
    www.ncbi.nlm.nih.gov/pubmed/8001158
  • Endothelin-B receptor mutations in patients with isolated ...
    We have identified two novel EDNRB mutations: a missense mutation in a sporadic ... missense mutation (W276C) in the endothelin-B receptor gene (EDNRB), mapping to ...
    hmg.oxfordjournals.org/cgi/content/full/5/3/351
  • A human model for multigenic inheritance: Phenotypic ...
    ... we identified a hypomorphic change (W276C) in EDNRB on chromosome ... that EDNRB in conjunction with RET determines HSCR susceptibility in this kindred and ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC26652/?tool=pubmed
  • Receptors, Endothelin :: genetics
    Southern blotting revealed a deletion encompassing the entire EDNRB gene in the sl chromosome. ... The mutant W276C receptor exhibited a partial impairment of ligand ...
    lib.bioinfo.pl/meid:13145
  • Hirschsprung disease, associated syndromes and genetics: a review
    Amiel, J; Sproat-Emison, E; Garcia-Barcelo, M; Lantieri, F; Burzynski, G; Borrego, S; Pelet, A; Arnold, S; Miao, X; Griseri, P; Brooks, A S; Antinolo, G; de Pontual, ...
    jmg.bmj.com/content/45/1/1.full
  • Chromosomes, Human, Pair 13
    BioInfoBank Library :: Chromosomes, Human, Pair 13 :: [Probability rates for different pregnancy outcomes in carriers of reciprocal chromosomal translocations ...
    lib.bioinfo.pl/meid:4250
  • A human model for multigenic inheritance: Phenotypic ...
    identified a hypomorphic change (W276C) in EDNRB on chromo ... offspring transmission of W276C is significantly associated with. transmission of multiple ...
    www.colorado.edu/MCDB/MCDB4410/pdf/PNAS.97.268.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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