FANCA P643A - GET-Evidence

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

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(FANCA Pro643Ala)

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 @ chr16:89839766: 4.9% (489/10040) in EVS
  • C @ chr16:88367266: 9.7% (12/124) in GET-Evidence
  • Frequency shown in summary reports: 4.9% (489/10040)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr16:89839766


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr16:89839766


hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr16:89839766


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr16:89839766


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom C @ chr16:89839766


huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr16:89839766


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr16:89839766


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr16:89839766


GS06985 - var-GS06985-1100-36-ASM
het C @ chr16:88367267


GS18526 - var-GS18526-1100-36-ASM
hom C @ chr16:88367267


GS18940 - var-GS18940-1100-36-ASM
het C @ chr16:88367267


GS18947 - var-GS18947-1100-36-ASM
het C @ chr16:88367267


GS19649 - var-GS19649-1100-36-ASM
het C @ chr16:88367267


GS20502 - var-GS20502-1100-36-ASM
hom C @ chr16:88367267


Other external references

  • rs17232910
    Web search results (2 hits -- see all)
  • FANCA Mutations
    FANCA. PolyMut. polymorphism. Mutation. 2151G>T. Published Name. G2195T ... FANCA. PolyMut. polymorphism. Mutation. 2426G>A. Published Name. 2426G/A. Amino acid change ...
  • 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 = 2
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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