PS2
No confirmed de novo data with verified maternity and paternity were identified, so PS2 cannot be assessed.
PS3
No validated functional studies demonstrating a damaging effect of this specific variant were identified from the available evidence, so PS3 was not assessed.
PS4
This variant has not been observed in COSMIC and is listed in ClinVar as Benign; no case-control or enrichment data showing increased prevalence in affected individuals were identified, so PS4 is not met.
PM1
No established mutational hotspot or well-characterized critical functional region for applying PM1 to this specific 5'UTR position was identified in the available evidence.
PM2
This variant is common in population databases rather than absent or rare.
PM3
No data were identified showing this variant in trans with a pathogenic variant in a recessive disorder, so PM3 was not assessed.
PM6
No assumed de novo occurrence data were identified, so PM6 was not assessed.
PP1
No segregation data were identified, so PP1 was not assessed.
PP3
Available computational evidence does not support a damaging effect on splicing.
PP4
No phenotype-specific evidence was identified showing a clinical presentation highly specific for a disorder caused by this variant, so PP4 was not assessed.
PP5
Although ClinVar lists this variant as Benign, PP5 was not used because this criterion concerns pathogenic assertions from a reputable source and independent evidence is available.
