Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014847.4(UBAP2L):c.682T>G(p.Phe228Val) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,768 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/22 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. F228L) has been classified as Uncertain significance.
UBAP2L (HGNC:29877): (ubiquitin associated protein 2 like) Enables RNA binding activity. Involved in binding activity of sperm to zona pellucida and stress granule assembly. Acts upstream of or within hematopoietic stem cell homeostasis. Part of PcG protein complex. [provided by Alliance of Genome Resources, Apr 2022]
Gain of glycosylation at T225 (P = 0.1595);.;Gain of glycosylation at T225 (P = 0.1595);.;Gain of glycosylation at T225 (P = 0.1595);.;.;Gain of glycosylation at T225 (P = 0.1595);Gain of glycosylation at T225 (P = 0.1595);