rs16892766
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The variant allele was found at a frequency of 0.0914 in 152066 control chromosomes in the gnomAD Genomes database, including 751 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 0.091 ( 751 hom., cov: 32)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 4.26
Links
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.39).
BA1
?
GnomAd highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.124 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes AF: 0.0914 AC: 13895AN: 152066Hom.: 751 Cov.: 32
GnomAD3 genomes
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AC:
13895
AN:
152066
Hom.:
Cov.:
32
Gnomad AFR
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Asia WGS
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AC:
161
AN:
3476
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