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Table 1 Characterization of 21 parental somatic mosaic variants identified in peripheral blood using clinical ES at BG

From: Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset

Gene Variant ACMG variant classification Proband phenotype Inheritance mode Parental mosaicism Level of mosaicism in ES (%) Level of mosaicism in NGS (%) Level of mosaicism in ddPCR
CACNA1C c.694G > C VUS Timothy Syndrome [MIM:601005] AD Maternal 1 2 NA
COL6A3 c.218A > G VUS Bethlem myopathy [MIM:58810] AD/AR Maternal 0.4 0.3 NA
COL11A1 c.3816 + 2dupT Pathogenic Stickler Syndrome 2: [MIM:604841] AD/AR Maternal 2.8 0.2 (HC) NA
DLL4 c.586G > A Likely pathogenic Adams-Oliver syndrome [MIM:616589] AD Paternal 2 2 0.05%
HUWE1 c.12257G > A Likely pathogenic Mental retardation, X-linked, turner type [MIM:30076] XL Maternal 0.3 0.1 NA
IFT172 c.4161-1G > A Pathogenic Retinitis pigmentosa [MIM:616394] AR Paternal 3 4 3.8%
KIF1A c.1132C > T VUS Polyhydramnios AD/AR Maternal 2 4 3.7%
KIF1A c.757G > A Pathogenic Mental retardation, autosomal dominant 9 [MIM:614255] AD/AR Paternal 1 0.1 NA
NRXN2 c.3382G > A VUS Autism spectrum disorder AD Maternal 5 6 4.5%
PDCD10 c.474 + 5G > A Pathogenic Cerebral cavernous malformations 3 [MIM:603285] AD Paternal 1 5 NA
PIGA c.986T > C Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2 [MIM:300868] XLR Maternal 2 2 1.83%
PTEN c.542T > C Pathogenic Cowden syndrome 1 [MIM:158350] AD Maternal 2 0.3 NA
PTPN11 c.923A > G Pathogenic Noonan syndrome 1 [MIM:163950] AD Maternal 1 0.3 NA
PTPN11 c.923A > G Pathogenic Noonan syndrome 1 [MIM:163950] AD Maternal 1 0.3 NA
PTPN11 c.922A > G Pathogenic Noonan syndrome 1 [MIM:163950] AD Maternal 1 0.3 NA
RBFOX1 c.474 + 6T > C VUS Autism spectrum disorder AD Paternal 1 0.2 NA
SMARCA2 c.2254G > A Likely pathogenic Nicolaides-Baraister syndrome [MIM:601358] AD Paternal 1 0.08 NA
SMARCA4 c.2936G > A Pathogenic Coffin Siri syndrome 4 [MIM: 614609] AD Paternal 4 5 4.76%
TPM1 c.475G > A Likely pathogenic Cardiomyopathy [MIM:115196] AD Paternal 2 0.1 NA
USP7 c.238A > T Likely pathogenic Intellectual disability and autism spectrum disorder [PMID: 26365382] AD Maternal 3 9 4.13
ZBTB20 c.1916G > A Likely pathogenic Primrose syndrome [MIM:259050] AD Paternal 1 3 NA
  1. AD autosomal dominant, AR autosomal recessive, HC GATK haplotype caller, NA none accountable, VUS variant of unknown significance, XLR X-linked recessive