EDNRB S305N - GET-Evidence

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

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Curation:
Currentness:

EDNRB S305N

(EDNRB Ser305Asn)


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

  • T @ chr13:78475230: 1.0% (111/10756) in EVS
  • T @ chr13:77373230: 0.8% (1/126) in GET-Evidence
  • Frequency shown in summary reports: 1.0% (111/10756)

Publications
 

Genomes
 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr13:77373231

 

Other external references
 

    dbSNP
  • rs5352
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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: 0.008 (benign)
    Web search results (39 hits -- see all)
  • CORRESPONDENCE
    EDNRB promotes migration and. proliferation of melanocyte precursors ... containing exon 4 of the EDNRB gene with L277L and S305N polymorphisms was ...
    jnci.oxfordjournals.org/cgi/reprint/98/17/1252.pdf
  • doi:10.1086/302329
    For the RET, EDNRB, and EDN3 genes, primer sequences and PCR-SSCP ... trant EDNRB mutations (S305N and N378I) we re- cently described in two patients with ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • RESPONSE: Re: Association Between Endothelin Receptor B ...
    Thirumaran et al. raise concerns about the true association of the S305N EDNRB mutation with melanoma risk that we previously reported in a case–control study. ...
    jnci.oxfordjournals.org/cgi/content/full/98/17/1253
  • Endothelin-B receptor mutations in patients with isolated ...
    Identification of a missense mutation (S305N) in exon 4 of the EDNRB gene. ... EDNRB belongs to the G protein-coupled heptahelical receptors superfamily and is ...
    hmg.oxfordjournals.org/cgi/content/full/5/3/351
  • Endothelin-B receptor mutations in patients with isolated ...
    To test whether mutations in the EDNRB gene could account for Hirschsprung in ... novel EDNRB mutations: a missense mutation in a sporadic case, S305N, which ...
    www.ncbi.nlm.nih.gov/pubmed/8852659
  • REVIEW ARTICLE Multiple Hits during Early Embryonic ...
    EDNRB /S305N. Normal. Auricchio et al. 1999. Severe insulin resistance ... In a study of Mennonite kindreds, RET, EDNRB, and a locus at 16q23 were identified as ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • EDNRB
    EXON. ETHNICITY (Number of families) REFERENCES. EDNRB. Hirschsprung Disease -26G>A. 5' UTR ... S305N. 914G>A. exon 4. Italian (1); Moroccan (1) Auricchio 1996; Brooks ...
    hearing.harvard.edu/genepages/ednrbdream.htm
  • Genome-wide analysis to predict protein sequence variations ...
    EDNRB P24530. S305N (VAR_003472) S305. Hirschsprung disease type 2 ... [Precursor], EDNRB; Protein FAM10A4, FAM10A4; Fanconi anemia group A protein, ...
    precedings.nature.com/documents/.../files/npre20082079-1.pdf
  • ednrb.xls
    CHANGE. EXON. ETHNICITY (Number of families) REFERENCES. 2. EDNRB. Hirschsprung Disease -26G>A ... S305N. 914G>A. exon 4. Italian (1); Moroccan (1) Auricchio 1996; Brooks ...
    www.hpcgg.org/LMM/SeparatePages/ednrb.xls
  • 内皮素B受体基因与先天性巨结肠关系的研究进展_基因时代
    EDNRB基因位于13号染色体q22, 长度大约为24 kb, GenBank ID1910, 含有7个外显子6个内含子, 其编码产物EDNRB, 与配体ET ... 近亲结婚后代HD患者检测发现两个新的EDNRB突变位点: 散发性巨结肠患者外显子5处错义突变S305N, 使得mRNA翻译时相应的丝氨酸被 ...
    ggene.cn/html/journal/wjg/2009/1118/3860.html

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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