FANCD2 Q320X - GET-Evidence

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

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(FANCD2 Gln320Stop)

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

  • GeneTests records for the FANCD2 gene
    Prostate cancer
    Fanconi Anemia
    BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer
    BRCA2 Hereditary Breast/Ovarian Cancer
    BRCA2-Related Fanconi Anemia
    FANCD2-Related Fanconi Anemia
    Web search results (5 hits -- see all)
  • FANCD2 Mutations
    FANCD2. PolyMut. mutation. Mutation. 958C>T. Published Name. 958C>T. Amino Acid Change. Q320X ... FANCD2. PolyMut. mutation. Mutation. Exon 17del. Published Name. Exon 17del ...
  • PII: S1097-2765(01)00172-1
    Blots were probed with a full-length FANCD2 cDNA and exposed ... nonsense mutation (Q320X) in exon 12 created a novel DdeI site. the nuclear complex ...
  • Methods and compositions for the diagnosis of cancer ...
    ... susceptibilities, defective DNA repair mechanisms and treatments thereof are provided. Among sequences provided here, the FANCD2 gene has been iden ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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