rs955396
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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 0.0731 in 290,254 control chromosomes in the GnomAD database, including 927 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 0.079 ( 513 hom., cov: 33)
Exomes 𝑓: 0.067 ( 414 hom. )
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.702
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.116 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes AF: 0.0788 AC: 11991AN: 152088Hom.: 513 Cov.: 33
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GnomAD4 exome AF: 0.0668 AC: 9220AN: 138048Hom.: 414 AF XY: 0.0655 AC XY: 5001AN XY: 76340
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GnomAD4 genome AF: 0.0788 AC: 11997AN: 152206Hom.: 513 Cov.: 33 AF XY: 0.0812 AC XY: 6047AN XY: 74436
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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