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Table 1 Summary of analyzed genes, genetic variants and the associated autosomal dominant (AD) diseases

From: Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease

Characteristics AD conditions
All* Severe and early onset** Severe and early onset, allelic imbalance***
Number of gene–disease associations 394 77 23
Number of AD diseases 390 76 23
Number of genes 353 72 21
Number of genes per AD disease 1–2 1–2 1
AD diseases, %β    
1–1 1.8 9.1 17.4
1–2 13.5 68.8 60.9
2–1 0.5 2.6 4.3
2–2 3.8 19.5 17.4
Number of variants 664 115 30
Number of variants per AD disease 1–16 1–9 1–3
AD variants, %    
PubMed articles    
> 1 peer-reviewed publication 60.4 67.0 80.0
1 peer-reviewed publication 39.6 33.0 20.0
Variant type    
Intron 0.3 - -
Missense 76.7 80.0 80.0
Nonsense 16.4 14.8 16.7
Splice acceptor 2.4 3.5 -
Splice donor 3.3 1.7 3.3
Synonymous 0.8 - -
Non-coding transcript exon 0.1 - -
ClinVar classification    
Pathogenic 79.7 83.5 90.0
Pathogenic/likely pathogenic 7.1 8.7 10.0
Likely pathogenic 13.2 7.8 -
  1. *AD conditions with ClinVar pathogenic and likely pathogenic ClinVar variants in ExAC (Additional file 1: Table S2)
  2. **Severe and early onset AD diseases with ClinVar pathogenic and likely pathogenic variants in ExAC (Additional file 1: Table S3)
  3. ***Severe and early onset AD diseases with ClinVar pathogenic and likely pathogenic variants in ExAC with some evidence of allelic imbalance (at least one allele was found with < 35% of read support; Additional file 1: Table S3). Nine of these genes have evidence of mosaicism (at least two alleles show signs of somatic origin (allelic imbalance))
  4. βAge of onset—Severity. Age of onset score 1 means congenital or very early (< 2 years), age of onset score 2 means mostly early (< 18 years) + variable, severity score 1 means severe, significantly reduced mobility or increased mortality in early life, and severity score 2 means severe plus variable expressivity