rs17621444
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 0.222 in 152,140 control chromosomes in the GnomAD database, including 4,253 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 0.22 ( 4253 hom., cov: 34)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.818
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.92).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.283 is higher than 0.05.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
|---|
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
|---|
Frequencies
GnomAD3 genomes 0.223 AC: 33825AN: 152022Hom.: 4251 Cov.: 34
GnomAD3 genomes
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33825
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152022
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34
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.222 AC: 33820AN: 152140Hom.: 4253 Cov.: 34 AF XY: 0.221 AC XY: 16412AN XY: 74346
GnomAD4 genome
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AC:
33820
AN:
152140
Hom.:
Cov.:
34
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AC XY:
16412
AN XY:
74346
Gnomad4 AFR
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Asia WGS
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AC:
518
AN:
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