Participant | Gene symbol | Refseq | Nucleotide substitution | Predicted protein alteration | VAF (a) | cBioportal (b) | gnomAD | Variant interpretation |
---|---|---|---|---|---|---|---|---|
A | CHEK2 | NM_001005735.1 | 1229delC (1100delC) | Thr410Metfs*15 | 0.4 | Ab | 0.008717 | Risk factor |
A | SDHA | NM_004168.2 | 1724C > T | Ala575Val | 0.4 | Bc | 0.0001386 | VUS |
A | ABCB11 | NM_003742 | 1724G > A | Arg575Gln | 0.4 | Bb | 0.0003315 | VUS |
A | HOXB13 | NM_006361 | 251G > A | Gly84Glu | 0.5 | Ac | 0.007618 | Risk factor |
A | MLH1 | NM_000249 | 27G > A | Arg9= | 0.5 | Ba | 0 | Likely pathogenic |
B | CHEK2 | NM_001005735.1 | 670C > T | Arg224Cys | 0.7 | Ab | 0.0005227 | VUS |
B | KLLN | NM_001126049.1 | 422G > A | Thr141Met | 0.6 | C | 0 | VUS |
B | REST | NM_005612 | 968 T > G | Met323Arg | 0.5 | Ac | 0 | VUS |
B | TRIM28 | NM_005762 | 2381C > T | Thr794Met | 0.5 | Ab | 0.0001986 | VUS |
B | LZTR1 (c) | NM_006767 | 1866_1867delTC | Pro623ThrfsTer45 | 0.5 | Bb | 0 | VUS |
C | BAP1 | NM_004656.3 | 944A > C | Glu315Ala | 0.4 | Bb | 0.0003263 | VUS |
C | FBXW7 | NM_001013415 | 248G > A | Arg83Lys | 0.5 | Bc | 0.0005178 | VUS |
C | RMRP (c) | NR_003051 | 71A > G | NA | 0.4 | C | 0.008687 | Pathogenic incidental finding |
C | SMO | NM_005631.4 | 517C > T | Arg173Cys | 0.5 | Bb | 0.0007454 | VUS |
E | ARID1B | NM_020732.3 | 4727C > T | Pro1576Leu | 0.4 | Ac | 0.00003098 | VUS |
E | MLH1 | NM_000249.3 | 41C > T | Thr14Ile | 0.7 | Bc | 0.000008792 | VUS |
E | SSX1 | NM_005635 | 293dupA | Met99AspfsTer24 | 0.6 | Bc | 0.0002149 | VUS |
E | FAT4 | NM_024582 | 7751C > A | Ser2584Tyr | 0.5 | Bc | 0.00005789 | VUS |
E | TOP2A | NM_001067 | 154G > A | Gly52Ser | 0.4 | Bc | 0 | VUS |
E | MEN1 | NM_000244 | 654C > A | Ala213= | 0.6 | Bc | 0 | Likely pathogenic |
F | TYR (c) | NM_000372.4 | 1147G > A | Asp383Asn | 0.6 | Ab | 0.0001784 | Pathogenic incidental finding |
G | ERCC3 (c) | NM_000122.1 | 1204G > A | Gly402Ser | 0.5 | Bc | 0.00004006 | VUS |
G | CTNNB1 | NM_001098210.1 | 319A > G | Met107Val | 0.5 | Ac | 0 | VUS |
G | TCF3 | NM_003200 | 689C > G | Pro230Arg | 0.5 | Bc | 0.00001430 | VUS |
H | RNF6 | NM_005977 | 1780C > A | Leu594Ile | 0.4 | Bc | 0 | VUS |
H | RNF6 | NM_005977 | 895G > C | Glu299Gln | 0.3 | Bc | 0.000008792 | VUS |
H | ARHGAP26 | NM_015071 | 619C > G | Leu207Val | 0.5 | Bc | 0.00001760 | VUS |
H | XRCC3 | NM_005432 | 172C > T | Arg58Trp | 0.5 | Ac | 0.00006208 | VUS |
H | TSC2 | NM_000548 | 1244C > T | Ala415Val | 0.5 | Ac | 0.0001866 | VUS |
J | TCF3 | NM_003200 | c.1213C > T | p.Arg405Cys | 0.5 | Ac | 0.00008796 | VUS |
J | PNP (c) | NM_000270 | c.701G > C | p.Arg234Pro | 0.6 | C | 0.0001471 | Pathogenic incidental finding |
J | ARHGAP26 | NM_015071 | c.1559A > G | p.Gln520Arg | 0.5 | C | 0.00006175 | VUS |