rs483082
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 0.273 in 152,284 control chromosomes in the GnomAD database, including 6,692 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 0.27 ( 6691 hom., cov: 32)
Exomes 𝑓: 0.12 ( 1 hom. )
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.11
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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 (AFR) allele frequency at 95% confidence interval = 0.443 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes ? AF: 0.273 AC: 41476AN: 151906Hom.: 6672 Cov.: 32
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GnomAD4 exome AF: 0.119 AC: 31AN: 260Hom.: 1 Cov.: 0 AF XY: 0.120 AC XY: 24AN XY: 200
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GnomAD4 genome ? AF: 0.273 AC: 41547AN: 152024Hom.: 6691 Cov.: 32 AF XY: 0.270 AC XY: 20079AN XY: 74300
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41547
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3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at