rs8193037
Positions:
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 0.0182 in 1,042,394 control chromosomes in the GnomAD database, including 453 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 0.017 ( 60 hom., cov: 33)
Exomes 𝑓: 0.018 ( 393 hom. )
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.188
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.75).
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.097 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes ? AF: 0.0172 AC: 2616AN: 152082Hom.: 56 Cov.: 33
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GnomAD4 exome AF: 0.0184 AC: 16337AN: 890194Hom.: 393 AF XY: 0.0176 AC XY: 8120AN XY: 460724
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GnomAD4 genome ? AF: 0.0173 AC: 2627AN: 152200Hom.: 60 Cov.: 33 AF XY: 0.0188 AC XY: 1399AN XY: 74428
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at