rs2287886
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 0.634 in 1,422,376 control chromosomes in the GnomAD database, including 289,594 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 0.66 ( 33236 hom., cov: 32)
Exomes 𝑓: 0.63 ( 256358 hom. )
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.136
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.98).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.735 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes ? AF: 0.655 AC: 99551AN: 151990Hom.: 33192 Cov.: 32
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GnomAD4 exome AF: 0.631 AC: 801970AN: 1270268Hom.: 256358 AF XY: 0.629 AC XY: 394582AN XY: 627326
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GnomAD4 genome ? AF: 0.655 AC: 99651AN: 152108Hom.: 33236 Cov.: 32 AF XY: 0.649 AC XY: 48245AN XY: 74344
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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