rs1800775
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 0.515 in 481,042 control chromosomes in the GnomAD database, including 64,531 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 0.52 ( 20884 hom., cov: 33)
Exomes 𝑓: 0.51 ( 43647 hom. )
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0920
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.89).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.582 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes AF: 0.522 AC: 79285AN: 151974Hom.: 20854 Cov.: 33
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GnomAD3 exomes AF: 0.508 AC: 88585AN: 174424Hom.: 22587 AF XY: 0.511 AC XY: 48698AN XY: 95346
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GnomAD4 exome AF: 0.512 AC: 168449AN: 328950Hom.: 43647 Cov.: 0 AF XY: 0.518 AC XY: 97232AN XY: 187742
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GnomAD4 genome AF: 0.522 AC: 79359AN: 152092Hom.: 20884 Cov.: 33 AF XY: 0.525 AC XY: 39066AN XY: 74352
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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