RIMS2 S278F - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

RIMS2 S278F

(RIMS2 Ser278Phe)


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 @ chr8:104897660: 0.9% (84/9724) in EVS
  • T @ chr8:104966835: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (84/9724)

Publications
 

Genomes
 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr8:104897660

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr8:104966836

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr8:104966836

 

Other external references
 

    dbSNP
  • rs17854256
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (5 hits -- see all)
  • Catalogue of Somatic Mutations in Cancer
    p.S278F. c.833C>T. Confirmed somatic variant. Heterozygous. 753596. GRK7. p. ... RIMS2. p.P671S. c.2011C>T. Confirmed somatic variant. Heterozygous. 753596 ...
    sanger.ac.uk/perl/genetics/CGP/...?action=sample&id=753596

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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