Table 2 Pathogenic variants at FLCN in 19 patients and 16 related asymptomatic members
From: Genetic insight into Birt–Hogg–Dubé syndrome in Indian patients reveals novel mutations at FLCN
COORD | SNP ID | HGVS | Consequence | Exon | Annotation | Ref | Alt | Patients | Asymptomatic members | Reports |
|---|---|---|---|---|---|---|---|---|---|---|
17,222,646 | rs558699420 | c.634C > T | p.Gln212Ter | 7 | Stop-gain | C | T | F5–25, F5–26, F5–27 | F5–24, F5–32 | Clinvar pathogenic |
17,217,085–17,217,095 | – | c.1150_1160del GTCCAGTCAGC* | p.Val384Phefs | 10 | Deletion | GTCCAGTCAGC | GTCCAGTCAGC/– | F11–70 | F11–73, F11–74 | Novel |
17,216,395 | rs80338682 | c.1285delC | p.His429Thrfs | 11 | Deletion | C | C/– | F1–1, F1–2, F12–77, F12–78, F13–82 to F13–85, F14–95, F15–99, F15–101 | F1–4 to F1–7, F12–80, F13–89, F15–105, F15–106 | Reported (hotspot) |
17,215,284 | – | c.1329_1332dupAGCC | p.Ala445Serfs | 12 | Duplication | AGCC | –/AGCC | F4–18 | None | Clinvar pathogenic |
17,216,379 | rs879255676 | c.1300 + 1G > A | Splice donor | 11–12 | Splice region | C | T | F2–9 | F2–10, F2–12 | Reported |
17,215,317 | – | c.1301−1G > A* | Splice acceptor | 11–12 | Splice region | C | T | F3–13, F3–14 | F3–16, F3–17 | Novel |