FANCA V1287I - 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 V1287I

(FANCA Val1287Ile)


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

  • 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)

Publications
 

Genomes
 

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
 

    dbSNP
  • rs17227354
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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 ...
    www.rockefeller.edu/fanconi/mutate/public/faapoly_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

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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