FANCA T1328A - GET-Evidence

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

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(FANCA Thr1328Ala)

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

  • C @ chr16:89805914: 5.1% (525/10236) in EVS
  • C @ chr16:88333414: 7.1% (9/126) in GET-Evidence
  • Frequency shown in summary reports: 5.1% (525/10236)


Tischkowitz MD, Morgan NV, Grimwade D, Eddy C, Ball S, Vorechovsky I, Langabeer S, Stöger R, Hodgson SV, Mathew CG. Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia. Leukemia. 2004 Mar;18(3):420-5. PubMed PMID: 14749703.



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr16:89805914


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr16:89805914


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr16:89805914


huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr16:89805914


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr16:89805914


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr16:89805914


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr16:89805914


GS06985 - var-GS06985-1100-36-ASM
het C @ chr16:88333415


GS18526 - var-GS18526-1100-36-ASM
het C @ chr16:88333415


GS18940 - var-GS18940-1100-36-ASM
het C @ chr16:88333415


GS18947 - var-GS18947-1100-36-ASM
het C @ chr16:88333415


GS19649 - var-GS19649-1100-36-ASM
het C @ chr16:88333415


Other external references

  • rs9282681
  • Score: 0.778 (possibly damaging)
    Web search results (2 hits -- see all)
  • FANCA Mutations
    FANCA. PolyMut. polymorphism. Mutation. 2151G>T. Published Name. G2195T ... T1328A. Exon. exon 40. Type. AA substitution. Comment. Mutation or Polymorphism?? Source. Levran et al. [1997] ...
  • Funktionelle und molekulare Pränataldiagnostik der Fanconi-Anämie
    Komplementationsgruppen (FANCA bis FANCJ, einschließlich D1 und D2) ... krankheitsverursachenden Mutationen im FANCA-Gen sind bisher jedoch nicht ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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