15-74747271-AT-A
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Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP6BA1
The variant allele was found at a frequency of 0.233 in 151,514 control chromosomes in the GnomAD database, including 6,676 homozygotes. Variant has been reported in Lovd as Benign (no stars).
Frequency
Genomes: 𝑓 0.23 ( 6676 hom., cov: 27)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.00
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
BP6
Variant 15-74747271-AT-A is Benign according to our data. Variant chr15-74747271-AT-A is described in Lovd as [Benign].
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.48 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes AF: 0.233 AC: 35207AN: 151398Hom.: 6644 Cov.: 27
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27
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.233 AC: 35309AN: 151514Hom.: 6676 Cov.: 27 AF XY: 0.242 AC XY: 17922AN XY: 74042
GnomAD4 genome
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35309
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27
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17922
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74042
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Asia WGS
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1734
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3478
ClinVar
Not reported inComputational scores
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Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at