ROS1 S1109L - GET-Evidence

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

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Curation:
Currentness:

ROS1 S1109L

(ROS1 Ser1109Leu)


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

  • A @ chr6:117683821: 7.7% (833/10758) in EVS
  • A @ chr6:117790513: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 7.7% (833/10758)

Publications
 

Genomes
 

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr6:117683821

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr6:117683821

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr6:117683821

 

GS06994 - var-GS06994-1100-36-ASM
hom A @ chr6:117790514

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr6:117790514

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr6:117790514

 

Other external references
 

    dbSNP
  • rs2229079
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.284 (possibly damaging)
    Web search results (5 hits -- see all)
  • Proto-oncogene tyrosine-protein kinase ROS precursor - Homo ...
    A chromosomal aberration involving ROS1 is found in glioblastoma multiform (GBM). An ... results in expression of a GOPC-ROS1 chimeric protein which has a constitutive receptor ...
    www.uniprot.org/uniprot/P08922
  • Entry View
    A chromosomal aberration involving ROS1 is found in glioblastoma multiform (GBM). An ... results in expression of a GOPC-ROS1 chimeric protein which has a constitutive receptor ...
    srs.dna.affrc.go.jp/srs8/srs?-id+1RgFAM1b2oXT0uW+...
  • UniProt: P08922
    ... DISEASE: A chromosomal aberration involving ROS1 is found in CC glioblastoma ... SITE 1880 1881 Breakpoint for translocation to form FT GOPC-ROS1 fusion protein. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:P08922

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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