Table 3 Genes mutated in the 17 unreported Group 1 families.
From: The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
Family | Gene | Variant | VAF | Transcript accession number | ExAC frequency | ACMG status | Associated non-hematological features |
|---|---|---|---|---|---|---|---|
FML007 | CEBPA | CEBPA: c.985_988dupGAAC: p.Gln330Argfsa74 | NA | ENST00000498907 | No/No | Pathogenic | No |
FML012 | DDX41 | DDX41: c.3G>A:p.Met1? | 0.454 | ENST00000507955 | 5.11E-05 | Likely pathogenic | No |
FML013 | DDX41 | DDX41: c.370C>T:p.Arg124X | 0.61 | ENST00000507955 | No | Likely pathogenic | No |
FML014 | ETV6 | ETV6: c.349C>T:p.Leu117Phe | 0.48 | ENST00000396373 | 8.24E−06 | VUS | No |
FML018 | GATA2 | GATA2: c.1061C>T:p.Thr354Met (het) | 0.62 | ENST00000341105 | No | Pathogenic | No |
FML019 | GATA2 | GATA2: c.1084C>T:p.Arg362X | 0.41 | ENST00000341105 | No | Likely pathogenic | Congenital deafness, vulva in situ neoplasia |
FML029 | RUNX1 del | RUNX1 deletion chr21:36349450–36572837 | NA | ENST00000300305 | No | Likely pathogenic | No |
FML030 | RUNX1 del | RUNX1 deletion chr21:36400658-36972948 | NA | ENST00000300305 | No | Likely pathogenic | No |
FML031 | RUNX1 del | RUNX1 deletion chr21:36389492-37056053 | NA | ENST00000300305 | No | Likely pathogenic | No |
FML032 | SAMD9L | SAMD9L: c.4418G>A:p.Ser1473Asn | 0.48 | ENST00000318238 | No | VUS | No |
FML037 | TERC | TERC: r.179_180TCdelinsGG | NA | ENST00000602385 | No | Likely pathogenic | Prematurely gray |
FML041 | TERT | TERT: c.1445delA:p.His482Profsa27 | 0.49 | ENST00000310581 | No | Pathogenic | Skin pigmentation abnormalities |
FML044 | FANCA | FANCA: c.2505-1G>T | 0.45 | ENST00000389301 | No | Pathogenic | Short stature, leucoplakia |
FANCA | c.3626+5G>C | 0.51 | ENST00000389301 | 0.000008961 | VUS | ||
FML045 | MECOM | MECOM: c.2443C>T; p.Arg815Trp | NA | ENST00000264674 | No | Likely pathogenic | Radioulnar synostosis |
FML047 | SBDS | SBDS: c.258+2T>C | 0.54 | ENST00000246868 | 0.003946 | Pathogenic | Learning difficulties, short stature, dysmorphic facies |
SBDS | c. 183_184delinsCT; p.Lys62X | 0.51 | ENST00000246868 | 0.0004118 | Pathogenic | ||
FML049 | TP53 | TP53:c.C844T:p.Arg282Trp | 0.96 | ENST00000376701 | No | Likely pathogenic | No |
FML048 | WAS | WAS: c.1336delA; p.Lys446fs | 1 | ENST00000376701 | No | Likely pathogenic | No |
