PALB2 Q988X - GET-Evidence

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

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Curation:
Currentness:

PALB2 Q988X

(PALB2 Gln988Stop)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (6 hits -- see all)
  • Table 1 : Biallelic mutations in : PALB2: cause Fanconi ...
    Nature Genetics publishes the very highest quality research in genetics. ... Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer ...
    www.nature.com/ng/journal/v39/n2/fig_tab/ng1947_T1.html
  • Biallelic mutations in PALB2 cause Fanconi anemia subtype FA ...
    cancer in early childhood, demonstrating that biallelic PALB2 ... sequenced PALB2 in 352 control chromosomes (176 normal indivi- duals) and did not ...
    medicine.mcgill.ca/oncology/pubs/Tischkowitz/...
  • TOPBP1, CLSPN and PALB2 genes in familial breast cancer ...
    In the PALB2 gene, a pathogenic mutation c.1592delT was identified at ... support homologous recombination or to restore cross link repair in PALB2 knock ...
    herkules.oulu.fi/isbn9789514289682/isbn9789514289682.pdf
  • Das famili√§re Mamma- und Ovarialkarzinom: Beyond BRCA ?
    Exon 9: Q988X. Exon 9: Q988X Exon 9: Q988X. Klassische Mutationen. Aber: ... Frequenz von PALB2-Mutationen. Nur vier trunkierende und zwei. Aminosäurenaustausche in 818 ...
    www.combating.de/2009/Meindl_BRCA.pdf
  • OMIM: 610355
    ... extraction showed that BRCA2 and PALB2 were associated with stable nuclear ... codepleted much of PALB2, whereas immunodepletion of PALB2 codepleted nearly all ...
    www.genome.jp/dbget-bin/www_bget?omim+610355
  • Zur genetischen Anamnese und Prim√§rtherapie des erblichen ...
    Niedrige Frequenz von PALB2- Mutationen und unterschiedliches ... Exon 9: Q988X. Exon 9: Q988X Exon 9: Q988X. Niedrige Frequenz von PALB2- Mutationen auch in ...
    tumorzentrum-muenchen.de/fileadmin/.../Meindl_BRCA_GH09.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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