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