TABLE 3.
The Age at Diagnosis and the Gender of the Uveal Melanoma Patients With BAP1 Germline Pathogenic (Null) Variants in the United States (n = 31)
| Age, y | Gender | Mutation Type | PubMed ID |
|---|---|---|---|
| 50 | Male | Frameshift deletion | 26719535 |
| 58 | Male | Frameshift insertion | 22545102 |
| 53 | Female | Nonsense | 22545102 |
| 37 | Male | Frameshift deletion | 22545102 |
| 30 | Female | INDEL-multiexon deletion | Unpublished |
| 29 | Male | Nonsense | 30883995 |
| 18 | Female | Frameshift deletion | 25687217 |
| 67 | Female | Frameshift deletion | 4041196 |
| 49 | Male | Frameshift deletion | 4041196 |
| 62 | Male | Nonsense | 27718540 |
| 63 | Female | Nonsense | 27718540 |
| Unknown | Unknown | Frameshift | 25974357 |
| Unknown | Unknown | Frameshift insertion | 25974357 |
| Unknown | Unknown | Frameshift insertion | 25974357 |
| 59 | Female | Nonsense | 21874000 |
| 48 | Female | Frameshift deletion | 1005633 |
| 71 | Male | Frameshift deletion | 1005633 |
| 53 | Female | Frameshift insertion | 21051595 |
| 41 | Female | Nonsense | 4041196 |
| 62 | Male | Frameshift insertion | 22545102 |
| 51 | Female | Nonsense | 22545102 |
| 55 | Male | Nonsense | 22545102 |
| 57 | Female | Nonsense | 22545102 |
| Unknown | Male | Nonsense | 22545102 |
| 49 | Male | Nonsense | 4041196 |
| 22 | Female | Frameshift deletion | 27718540 |
| 52 | Female | Nonsense | 21941004 |
| 50 | Female | Nonsense | 21941004 |
| 16 | Female | Whole Gene deletion | 30883995 |
| 34 | Female | Nonsense | Unpublished |
| 64 | Male | Frameshift | Unpublished |
Age of onset of the disease was not available for 4 patients.
None of the variants were identified in the gnomAD database.