16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACACACAC
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0021 ( 7 hom., cov: 0)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.32
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BS2
High Homozygotes in GnomAd4 at 7 gene
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes AF: 0.00206 AC: 259AN: 125444Hom.: 7 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: 0.00206 AC: 259AN: 125508Hom.: 7 Cov.: 0 AF XY: 0.00224 AC XY: 133AN XY: 59428
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59428
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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