Table 2.
Genetic information of the individuals with uterine leiomyomas and a germline mutation in one of the genes encoding SRCAP complex subunits
| Individual ID | Germline mutationa | AFbin gnomAD v.2.1.1 (Finnish) | AFbin gnomAD v.2.1.1 (total) | Myoma ID | Second hita | Mutation in another driver genea |
|---|---|---|---|---|---|---|
| My6105 | ACTL6A c.1210−8T>G (p.Gly404Phefs∗16) | 0 | 0 | My6105m1 | c.85_86delinsTT (p.Gly29Phe) | – |
| My6105m4 | c.578_579insTTCA TAGGCATTGT (p.Lys194Serfs∗2) |
– | ||||
| My6105m5 | duplication of exon 12c | – | ||||
| My6564 | YEATS4 c.74T>C (p.Ile25Thr) | 0 | 0.00001998 | My6564m1 | hypermethylation | – |
| My6606 | YEATS4 c.74T>C (p.Ile25Thr) | 0 | 0.00001998 | My6606m1 | N/Ad,f | – |
| My6606m2 | N/Ad,f | – | ||||
| My6606m3 | N/Ad,f | – | ||||
| My6606m4 | hypermethylation | – | ||||
| My6606m5 | N/Ad,f | – | ||||
| My6606m6 | hypermethylation | – | ||||
| My6589 | DMAP1 c.907−5C>G | 0.003988 | 0.0007274 | My6589m1 | N/De,f | – |
| My6621 | DMAP1 c.1247C>T p.(Pro416Leu)g | 0.001397 | 0.0004105 | My6621m1 | N/De,f | – |
| My6638 | DMAP1 c.1158T>G (p.Tyr386∗) | 0 | 0 | My6638m1 | c.79A>T (p.Lys27∗); c.85G>T (p.Asp29Tyr) | – |
| My6638m2 | c.511T>G (p.Phe171Val) | – | ||||
| My6638m3 | c.199delG (p.Asp67Metfs∗17) | – | ||||
| My6638m4 | N/De,f | MED12 c.83_99+1del18 | ||||
| My6660 | DMAP1 c.409G>C (p.Val137Leu)g | 0.005693 | 0.0008837 | My6660m1 | N/De,f | – |
a
Variants and mutations given according to the following GenBank reference sequences, GenBank: NM_004301.5 (ACTL6A), NM_006530.4 (YEATS4), NM_019100.5 (DMAP1), NM_005120.3 (MED12).
b
AF, allele frequency.
c
Duplicated region chr3: 179,583,28 –179,583,524 (GRCh38).
d
N/A, information not available.
e
N/D, not detected.
f
Methylation data not available.
g
Pathogenicity uncertain, predicted tolerated by SIFT and benign by PolyPhen-2.