rs17245715
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 0.106 in 458,552 control chromosomes in the GnomAD database, including 3,157 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 0.090 ( 843 hom., cov: 33)
Exomes 𝑓: 0.11 ( 2314 hom. )
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.522
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.63).
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.204 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes ? AF: 0.0896 AC: 13629AN: 152182Hom.: 841 Cov.: 33
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GnomAD4 exome AF: 0.115 AC: 35166AN: 306252Hom.: 2314 AF XY: 0.118 AC XY: 20557AN XY: 174464
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GnomAD4 genome ? AF: 0.0896 AC: 13639AN: 152300Hom.: 843 Cov.: 33 AF XY: 0.0958 AC XY: 7133AN XY: 74464
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13639
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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