FANCA L798Shift - GET-Evidence


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 -

No known data for this variant


No known data for this variant

Clinical importance
Severity 4
Penetrance 5


High clinical importance, Uncertain pathogenic

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

Inheritance pattern


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.



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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