Table 2 Somatic DNMT3A mutations within a cohort of 160 healthy younger individuals.
Sample number | Sex, age | DNMT3A exon | Variant Ensemble | Protein | Ensemble entry | PolyPhen-2 prediction | PROVEAN prediction | % Reads displaying variant gDNA | % Reads displaying variant buccal cells |
|---|---|---|---|---|---|---|---|---|---|
#72 | Female, 28 | 23 | c.2645G>A | p.R882H | Somatic mutation found in human cancers (COSM52944) and pathogenic SNP (rs147001633) | Probably damaging | Deleterious | 18.88 | 6.10 |
#76 | Male, 31 | 14 | c.1651A>G | p.N551D | Not displayed in Ensemble | Probably damaging | Deleterious | 8.49 | 0.00 |
#96 | Male, 49 | 19 | c.2309C>T | p.S770L | Somatic mutation found in human cancers (COSM231549) and SNP (rs758845779) | Probably damaging | Deleterious | 2.43 | 0.00 |
#149 | Male, 63 | 23 | c.2644C>T | p.R882C | Somatic mutation found in human cancers (COSM53042) and pathogenic SNP (rs377577594) | Probably damaging | Deleterious | 8.00 | 0.00 |
#151 | Female, 69 | 8 | c.862delC | p.R288Gfs*28 | Not displayed in Ensemble | No predictions available | No predictions available | 37.30 | 0.00 |
#158 | Female, 74 | 20 | c.2381T>C | p.F794S | Not displayed in Ensemble | Probably damaging | Deleterious | 1.54 | 0.00 |
