rs200681711
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001371702.1(CYP20A1):c.-242A>C variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000089 in 1,460,146 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001371702.1 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 27
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250352Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135370
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1460146Hom.: 0 Cov.: 32 AF XY: 0.0000110 AC XY: 8AN XY: 726430
GnomAD4 genome Cov.: 27
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at