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genetics:variants:ala16_ala18del [Retinoblastoma Wiki]
 

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p.Ala16_Ala18del

Defining Data

  • c.45_53del
  • g.2104_2112del
  • observed 7 times


Classification of Pathogenicity

strong evidence against pathogenicity

  • no cosegregation in a familial case
  • present in tumor in addition to two deleterious mutations


Conclusion

p.Ala16_Ala18del seems to be non-pathogenic



Additional Info

from email Z.Onadim, 5/11
“In tumor and blood DNA of unilateral patient and unaffected mother and siblings, tumor has two other deleterious mutations not present in patient’s blood DNA”


from email D.Rushlow, 3/11

Fam. 436: Tumor has hetero c.89delA, het c.1690del33 and hetero c.45del9 Blood has hetero c.89delA and hetero c.45del9

Fam. 36:Promoter mutation hetero g.1871 G>T segregates with disease Hetero c.45del 9 is only in blood of one affected individual in family

Fam. 910: Tumor has homozygous IVS1+2T>A (c.137+2T>A); blood does not Tumor has homozygous c.45del9; blood has hetero c.45del9

Fam. 1085 No tumor available. Blood has hetero c.45_53del9

Fam. 1153: Tumor has Homozygous promoter hypermethylation Blood has hetero c.45del9; tumor does not have

Fam. 1187: Tumor has hetero Arg661Trp and hetero IVS19-1G>C, not in blood. Blood and tumor have hetero c.45_53del9

 
genetics/variants/ala16_ala18del.txt · Last modified: 2011/05/24 11:18 by steffi
 
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