Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction

Table 2 Summary of the homozygous loci found on chromosome 2 of fetus 2

Gene	Location	Variant	Zygote			Pathogenicity prediction				GnomAD (MAF %)
Gene	Location	Variant	Fetus	Father	Mother	SIFT	Poly-Phen	Clin-Pred	Mutation Taster	GnomAD (MAF %)
TTN	chr2:179,392,289	c.107564G > A(p.Ser35855Asn)	Hom	Het	Wild	Tol	Beni	Del	Poly	–
MMADHC	chr2:150,432,353	c.481 T > A(p.Phe161Ile)	Hom	Het	Wild	Del	Poss dam	Tol	Dis Caus	EA: 0.1220
ATP6V1B1	chr2:71,190,308	c.926A > G(p.Glu309Gly)	Hom	Het	Wild	Del	Beni	–	Dis Caus	EA: 0.4261 Fin: 0.003981
										SA: 0.003266
VWA3B	chr2:98,709,718	c.163A > T(p.Ile55Phe)	Hom	Het	Wild	Del	Prob Dam	Del	Poly	NFE: 0.001554
										EA: 0.005119

Hom Homozygous, Het Heterozygous, Wild Wild-type, Del deleterious, Tol tolerated, Prob dam probably damaging, Poss dam possibly damaging, beni benign, Dis Caus disease causing, Poly polymorphism, Neu neutral
Higher GERP scores are more deleterious
The gnomAD MAF: NFE non-Finnish European, Lat Latin, Afr African, EA East Asian, Fin Finish, SA South Asian

ISSN: 1755-8166