rs372762092
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001040424.3(PRDM15):āc.2767G>Cā(p.Glu923Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000359 in 1,614,112 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E923K) has been classified as Uncertain significance.
Frequency
Consequence
NM_001040424.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152196Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251416Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135892
GnomAD4 exome AF: 0.0000376 AC: 55AN: 1461798Hom.: 0 Cov.: 32 AF XY: 0.0000536 AC XY: 39AN XY: 727206
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152314Hom.: 1 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74492
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at