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genetics:variants:ala14ala [Retinoblastoma Wiki]
 

p.Ala14Ala

  • c.42C>T
  • g.2101C>T
  • observed 4 times
  • reported as a somatic and as a de novo germline mutation



Classification of Pathogenicity



Additional Info

from email Z. Onadim, 5/11 Present in a familial bilateral rb case in addition to a deleterious mutation inherited from the affected mother. This variant has been inherited from the unaffected father.

from email Rushlow, 3/11
Patient with unilat. isoliertem RB, Hetero in blood. No tumor available. Previously found by DL in uni proband and father’s blood but not in homozygous tumor; CD found this in two bilateral patients with known null mutations.


from “die13er”
g.2101C>T: Classification based on observed phenotypes

  • 05E0172: isolated unilateral patient and his father, both mt in DNA from blood, mt not prensent in DNA from tumor wiht LOH and retention of the maternal RB1 allele (without g.2101C>T)
  • isolated bilateral patient, germline, Nichols et al 2005
  • isoliert unilaterales RB, 13q-deletion konstitutionell, Mutation in Tumor nicht in Blut, Hogg et al 1993
  • Diane Rushlow: This g.2101C>T (c.42C>T) (p.A14A) change is the same one that Charlotte Domering inquired about in 2007. Charlotte found this in 2 different bilateral patients combined with known null mutations. As well, you have found that the tumor in your unilateral patient did not retain the allele carrying this change. This is strongly supportive that this is a rare non-oncogenic variant. We have not seen this change, however we do occasionally see a nearby (persumably non-oncogenic) 9 bp deletion at c.45 that deletes three alanines. We have seen the 9 bp del in about six probnads in combination with known oncogenic mutations.
Experimental Evidence
  • Schopen: A/B
TFBS
  • xxx
ORF alteration
  • p.Ala14Ala
 
genetics/variants/ala14ala.txt · Last modified: 2011/05/24 11:14 by steffi
 
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