rs743572
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000102.4(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 0.386 in 1,408,408 control chromosomes in the GnomAD database, including 106,653 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000102.4 5_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.391 AC: 59374AN: 151974Hom.: 11760 Cov.: 32
GnomAD3 exomes AF: 0.398 AC: 98034AN: 246120Hom.: 19776 AF XY: 0.396 AC XY: 52888AN XY: 133508
GnomAD4 exome AF: 0.386 AC: 484897AN: 1256316Hom.: 94874 Cov.: 18 AF XY: 0.386 AC XY: 245281AN XY: 635484
GnomAD4 genome AF: 0.391 AC: 59442AN: 152092Hom.: 11779 Cov.: 32 AF XY: 0.388 AC XY: 28875AN XY: 74358
ClinVar
Submissions by phenotype
not provided Benign:3
- -
- -
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:2
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. -
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at