Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM2_SupportingPM5PP3_StrongPP5_Moderate
The NM_000500(CYP21A2):c.92C>A(p.Pro31Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P31L) has been classified as Pathogenic.
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
GnomAD3 genomesCov.: 32
Submissions by phenotype
|Pathogenic, criteria provided, single submitter||clinical testing||Clinical Genetics Karolinska University Hospital, Karolinska University Hospital||Nov 23, 2018||- -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at