FANCA V1287I - GET-Evidence

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

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(FANCA Val1287Ile)

Short summary


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


Insufficiently evaluated not reviewed

(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

  • T @ chr16:89806477: 2.7% (295/10758) in EVS
  • T @ chr16:88333977: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 2.7% (295/10758)



hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr16:89806477


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr16:89806477


GS18504 - var-GS18504-1100-36-ASM
het T @ chr16:88333978


GS18517 - var-GS18517-1100-36-ASM
het T @ chr16:88333978


GS19017 - var-GS19017-1100-36-ASM
het T @ chr16:88333978


GS19239 - var-GS19239-1100-36-ASM
het T @ chr16:88333978


GS19834 - var-GS19834-1100-36-ASM
het T @ chr16:88333978


Other external references

  • rs17227354
  • Score: 0.349 (possibly damaging)
    Web search results (2 hits -- see all)
  • FANCA Mutations
    FANCA. PolyMut. polymorphism. Mutation. 3859G>A. Published Name. 3859G/A ... V1287I. Exon. exon 39. Type. AA substitution. Comment. Source. Levran et al. [1997] Proper ...
  • 6980.html
    4255 FANCA variants (A181V and V1287I) are overrepresented in breast tumors from women of African ancestry. ... Hence, somatic mutations in FANCA are not likely to be the major ...

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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