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genetics:variants:met219thr [Retinoblastoma Wiki]
 

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p.Met219Thr

Defining Data

  • c.656T>C
  • g.56901T>C
  • observed 1 time


Classification of Pathogenicity

Email from Diane Rushlow, 19.03.2010

  • predicted to be damaging by SIFT and Polyphen
  • found in tumor and blood in addition to a p.Ala488Glu change (parental samples requested)



Additional Info
“Case 1-Isolated unilateral with a homozygous exon 16 missense mutation called c.1463C>A (GCG>GAG) p.Ala488Glu. This mutation is not in blood and causes a charge change in the “A” pocket, and was predicted to be damaging by both SIFT and Polyphen. We have previously seen non-germline C489Y and L491P.We felt certain this Ala488Glu was causative, and that this was a non-germline case. However we later found an additional homozygous exon 7 change in tumor, called c.656T>C(ATG>ACG) p.Met219Thr. Met219Thr is also in the proband’s blood; we are requesting parental samples. It is difficult to make a certain call for this change. I know that you earlier found a missense change at amino acid 220 that was oncogenic but that one created a splice site, and caused mis-splicing. We have not seen any other definitely oncogenic missense changes in exon 7 in our data. SIFT and Polyphen predict that Maet219Thr is damaging”

ABout this patient from email 30.3.11: Tumor shows homozygous (presumably deleterious) c.1463C>A (p.Ala488Glu) and homozygous p.Met219Thr. Blood shows only hetero Met219Thr. Father not available.

 
genetics/variants/met219thr.txt · Last modified: 2011/04/20 20:35 by steffi
 
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