10-70600342-C-A
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001083116.3(PRF1):c.539+22G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000217 in 1,613,744 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_001083116.3 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152108Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000520 AC: 13AN: 249842 AF XY: 0.0000740 show subpopulations
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1461636Hom.: 0 Cov.: 34 AF XY: 0.0000248 AC XY: 18AN XY: 727104 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152108Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74302 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at