EDNRB W276C - GET-Evidence

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(EDNRB Trp276Cys)

Short summary


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


Insufficiently evaluated pathogenic

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

Inheritance pattern


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)



Other external references

  • GeneTests records for the EDNRB gene
    Hirschsprung Disease
    Waardenburg Syndrome Type IV
    EDNRB-Related Hirschsprung Disease
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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, ...
  • Chromosomes, Human, Pair 13
    BioInfoBank Library :: Chromosomes, Human, Pair 13 :: [Probability rates for different pregnancy outcomes in carriers of reciprocal chromosomal translocations ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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