FANCA A181V - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

FANCA A181V

(FANCA Ala181Val)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr16:89874756: 6.1% (651/10758) in EVS
  • A @ chr16:88402256: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 6.1% (651/10758)

Publications
 

Genomes
 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr16:88402257

 

Other external references
 

    dbSNP
  • rs17232246
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.445 (possibly damaging)
    Web search results (3 hits -- see all)
  • FANCA Mutations
    FANCA. PolyMut. mutation. Mutation. 542C>T. Published Name. 542C>T. Amino acid change. A181V. Exon ... FANCA. PolyMut. mutation. Mutation. 3920delA. Published Name. 3920delA ...
    www.rockefeller.edu/fanconi/mutate/public/faamut_pub.html
  • 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 ...
    www.ibp.cz/labs/LC/files/AACR_07/files/6980.html
  • FLUORESCENCE IN SITU HYBRIDIZATION AS A DIAGNOSTIC TOOL FOR ...
    FANCA and FANCC mutations are the most prevalent, accounting 65% and ... families (FANCA) from Spain with an estimated carrier frequency of 1 in 64 to 1 ...
    etd.uovs.ac.za/ETD-db/theses/.../unrestricted/NogabeSJ.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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