Table 1.
FLNCLOF variant details in the MyCode cohort
| CHR:POS | HGVSc (NM_001458.5) |
HGVSp (NP_001449.3) |
Consequence | ClinVar Review Status | N Pts |
|---|---|---|---|---|---|
| 7:128835324 | c.353–2A>G | -- | Splice | . | 1 |
| 7:128837255 | c.697C>T | p.Gln233* | Nonsense | P, 1-star | 1 |
| 7:128841281 | c.1926_1947del | p.Ile643Glufs*21 | Frameshift | . | 2 |
| 7:128841364 | c.2007+1G>A | -- | Splice | . | 1 |
| 7:128841529 | c.2084del | p.Arg695Leufs*8 | Frameshift | P, 1-star | 1 |
| 7:128841565 | c.2119C>T | p.Gln707* | Nonsense | P, 1-star | 7 |
| 7:128842375 | c.2265+1G>A | -- | Splice | LP, 1-star | 4 |
| 7:128842375 | c.2265+1G>T | -- | Splice | LP, 1-star | 4 |
| 7:128843418 | c.2652_2653insG | p.Lys886Glufs*34 | Frameshift | . | 2 |
| 7:128843861 | c.2878del | p.Val960Trpfs*29 | Frameshift | . | 1 |
| 7:128844656 | c.3193–2A>G | -- | Splice | LP, 1-star | 2 |
| 7:128845989 | c.3791–1G>C | -- | Splice | P/LP, 2-star | 2 |
| 7:128846094 | c.3901_3904del | p.Asp1301Profs*3 | Frameshift | . | 1 |
| 7:128846744 | c.4128–1G>C | -- | Splice | . | 8 |
| 7:128848974 | c.4926_4927insACGTCACA | p.Val1643Thrfs*26 | Frameshift | P, 1-star | 1 |
| 7:128849329 | c.4952–2A>T | -- | Splice | LP, 1-star | 1 |
| 7:128851361 | c.5668+1G>C | -- | Splice | . | 4 |
| 7:128851539 | c.5754del | p.Leu1919Cysfs*34 | Frameshift | . | 1 |
| 7:128852730 | c.5983del | p.Arg1995Alafs*21 | Frameshift | P, 1-star | 1 |
| 7:128853517 | c.6258del | p.Asn2087Thrfs*40 | Frameshift | . | 1 |
| 7:128854163 | c.6676del | p.Leu2226Trpfs*25 | Frameshift | . | 1 |
| 7:128855206 | c.7143T>G | p.Tyr2381* | Nonsense | . | 2 |
| 7:128856630 | c.7365del | p.Tyr2455* | Nonsense | LP, 1-star | 4 |
| 7:128856636 | c.7371del | p.Glu2458Serfs*71 | Frameshift | P, 1-star | 4 |
| 7:128856856 | c.7496_7497insTGCT | p.Gln2499Hisfs*46 | Frameshift | P, 1-star | 1 |
| 7:128857312 | c.7757del | p.Ser2586Thrfs*29 | Frameshift | . | 1 |
| 7:128858006 | c.7781–2A>C | -- | Splice | . | 1 |
Coordinates are with respect to GRCh38. ClinVar review as of April 2021. P: pathogenic; LP: likely pathogenic.