rs4522666
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The variant allele was found at a frequency of 0.546 in 350,944 control chromosomes in the GnomAD database, including 57,229 homozygotes. 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
Genomes: 𝑓 0.48 ( 21094 hom., cov: 33)
Exomes 𝑓: 0.59 ( 36135 hom. )
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.0170
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.94).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.632 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes AF: 0.482 AC: 73240AN: 152032Hom.: 21085 Cov.: 33
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GnomAD4 exome AF: 0.595 AC: 118210AN: 198794Hom.: 36135 AF XY: 0.591 AC XY: 64158AN XY: 108606
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GnomAD4 genome AF: 0.481 AC: 73260AN: 152150Hom.: 21094 Cov.: 33 AF XY: 0.486 AC XY: 36121AN XY: 74378
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at