Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000102(CYP17A1):c.-34T>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.391 in 151974 control chromosomes in the gnomAD Genomes database, including 11760 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Verdict is Benign. Variant got -20 ACMG points.
GnomAD3 genomes AF: 0.391AC: 59374AN: 151974Hom.: 11760Cov.: 32 GnomAD3 exomes AF: 0.398AC: 98034AN: 246120Hom.: 19776 AF XY: 0.396AC XY: 52888AN XY: 133508 GnomAD4 exome AF: 0.386AC: 484897AN: 1256316Hom.: 94874 AF XY: 0.386AC XY: 245281AN XY: 635484
Submissions by phenotype
|Benign, criteria provided, single submitter||clinical testing||Invitae||Nov 04, 2022||- -|
|Benign, criteria provided, single submitter||clinical testing||GeneDx||Mar 03, 2015||This variant is associated with the following publications: (PMID: 25929975, 24629213, 7849715, 20113968, 16998812, 17307805, 19013303, 21716904, 20133979, 17606708, 9067272, 20798986) -|
Deficiency of steroid 17-alpha-monooxygenase
|Benign, criteria provided, single submitter||clinical testing||Genome-Nilou Lab||Jul 01, 2021||- -|
|Benign, criteria provided, single submitter||clinical testing||Illumina Laboratory Services, Illumina||Mar 06, 2018||This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at