Table 4 Clinical data, ES results and some prominent related data for defined variants
ID | Subject 1 | Subject 2 | Subject 3 | Subject 4 |
|---|---|---|---|---|
Gene name | IQSEC2 | FOXG1 | DMD | CHKB |
Exon number | exon 5 of 15 | exon 1 of 1 | exon 10 of 79 | exon 3 of 11 |
Nucleotide change | c.1637G > A | c.563 C > A | c.631T > A | c.382G > T |
NM number | (NM_001111125.3) | (NM_005249.5) | (NM_004010.3) | (NM_005198.4) |
genomic change (hg38) | g.53,250,939 C > T | g.28,767,842 C > A | g.32,645,113 A > T | g.50,581,814 C > A |
NM number | (NM_001111125.3) | (NM_005249.5) | (NM_004010.3) | (NM_005198.4) |
Effect on protein | p. Trp546Ter | p.Ala188Glu | p.Leu211Met | p.Glu128Ter |
NP number | NP_001104595.1 | NP_005240.3 | NP_004001.1 | NP_005189.2 |
Alteration type | nonsense | missense | missense | nonsense |
ACMG classification | Pathogenic PVS1/PS2/PS4/PM2/PP3 | Pathogenic PS2/PS4/PM1/PM2/PM5/PP2/PP3 | Pathogenic PS2/PS4/PM2/PP3 | Pathogenic PVS1/ PS4/PM2/PM3/PP1/PP3 |
CADD Score | 36 | 42 | 15 | 32 |
Zygosity | Het | Het | Hemi | Hom |
ClinVar | SCV001251727 | SCV001337647.1 | SCV000746310 | SCV000923677 |
MAF | N/A | N/A | 0.0000109 | N/A |
Inheritance | XLD / de novo | AD / de novo | XLR / de novo | AR |
sex | F | F | M | M |
Method of detection | ES | ES | ES | ES |
Associated Syndrome (MIM) | Intellectual disability, X-linked 1 (MIM 309530) Rett-like syndrome | Rett-like syndrome, congenital variant, FOXG1 syndrome (MIM 613454) | Becker Muscular Dystrophy (MIM 300376) dilated | Megaconial type of congenital muscular dystrophy (CMD) (MIM 602541) |