FANCA L798Shift - GET-Evidence

Curation:
Currentness:

FANCA L798Shift

(FANCA 798delLinsShift)


Short summary

No known reports, predicted to be very damaging. Other recessive mutations in this gene cause Fanconi Anemia (complementation group A).

Variant evidence
Computational 3

Severe frameshift variant, other variants in this gene implicated in this disease

Functional -
Case/Control

No known data for this variant

Familial

No known data for this variant

 
Clinical importance
Severity 4
Treatability
Penetrance 5
 

Impact

High clinical importance, Uncertain pathogenic

(The "high clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

Other severe variants (including frameshift-causing microdeletions and microinsertions like this one, both upstream and downstream of this position) are implicated in causing Fanconi anemia (complementation group A) in a recessive manner. Because this has only been seen heterozygously in one PGP participant (may be quite rare) and is predicted being similarly disruptive, it is tentatively evaluated as having the same recessive pathogenic effect.

Allele frequency

  • None available.

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr16:89836358

 

Other external references
 

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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