CD46 A353V - GET-Evidence

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

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CD46 A353V

(CD46 Ala353Val)

Short summary


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


Insufficiently evaluated not reviewed

(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

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



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


Other external references

  • rs35366573
  • GeneTests records for the CD46 gene
    Atypical Hemolytic-Uremic Syndrome
    CD46-Related Atypical Hemolytic-Uremic Syndrome
  • 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. ...
  • Supplementary Table xls.1
    rs17160348*A353V. rs17160349. rs17160775*AGRN XM_372195 XP_372195 ... D266NOmembrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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