PALB2 Q988X - GET-Evidence

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

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(PALB2 Gln988Stop)

Short summary


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


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • OMIM: 610355
    ... extraction showed that BRCA2 and PALB2 were associated with stable nuclear ... codepleted much of PALB2, whereas immunodepletion of PALB2 codepleted nearly all ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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