CD46 A353V - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

CD46 A353V

(CD46 Ala353Val)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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 @ chr1:207958446: 1.2% (130/10756) in EVS
  • Frequency shown in summary reports: 1.2% (130/10756)

Publications
 

Genomes
 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr1:207958446

 

Other external references
 

    dbSNP
  • rs35366573
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CD46 gene
    Atypical Hemolytic-Uremic Syndrome
    CD46-Related Atypical Hemolytic-Uremic Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CD46
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (3 hits -- see all)
  • Catalogue of Somatic Mutations in Cancer
    CD46. p.A353V. Co82. TCF7L2. p.? Co82. CD93. p.? Co82. MLL3. p.D400N. Co82. SYNE1. p.E4210D. Co82. APC ... CD46. p.C228Y. Co92. C8orf34. p.K50N. Co92. SPAG17. p.D1707E. Co92. ACIN1. p. ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&paper_id=21930
  • Supplementary Table xls.1
    rs17160348*A353V. rs17160349. rs17160775*AGRN XM_372195 XP_372195 ... D266NOmembrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Catalogue of Somatic Mutations in Cancer
    The consensus coding sequences of human breast and colorectal cancers. ... CD46. p.A353V. Co79. MLL3. p.L478W. Co79. P2RY14. p.E304* Co79. MGC33407. p.A42D. Co79. PTPRD. p. ...
    sanger.ac.uk/perl/genetics/CGP/...&id=1235050&pmid=16959974

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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