19-39245644-CATAT-C
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.035 ( 247 hom., cov: 0)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.240
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.108 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes AF: 0.0351 AC: 4818AN: 137414Hom.: 247 Cov.: 0
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0351 AC: 4830AN: 137468Hom.: 247 Cov.: 0 AF XY: 0.0349 AC XY: 2302AN XY: 65946
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2302
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65946
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ClinVar
Not reported inComputational scores
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Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at