TABLE 1.
Genetic variants identified in F2 gene in the patient
| Variant (nucleotide position) (NM_000506.3; GRCh38) | Variant (amino acid position) | Overall allele frequency reported in GnomAD, a n (%) | In silico tools b predicting the variant as damaging | ACMG classification |
|---|---|---|---|---|
| c.1814_1815del | p.(His605Argfs*13) | 0.00001 (0.001) | ‐ | ACMG #2 likely pathogenic |
| c.1147C>T | p.(Arg383Trp) | 0.00001 (0.001) |
SIFT (score: 0.02) Mutation Taster (prob, 0.853) Polyphen2 (score, 1.00) |
ACMG #3 variant of unknown significance |
| c.494C>T | p.(Thr165Met) | 0.205 (20.5) | None | ACMG #5 benign polymorphism |
| c.423‐7G>C | ‐ | 0.593 (59.3) | None | ACMG #5 benign polymorphism |
ACMG, American College of Medical Genetics and Genomics. 7
a
GnomAd frequency (https://gnomad.broadinstitute.org/).