rs928952
Positions:
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
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 0.59 ( 14147 hom., 19477 hem., cov: 23)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0700
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.04).
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 0.594 AC: 65618AN: 110461Hom.: 14147 Cov.: 23 AF XY: 0.595 AC XY: 19462AN XY: 32721
GnomAD3 genomes
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65618
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110461
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23
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19462
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32721
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.594 AC: 65624AN: 110516Hom.: 14147 Cov.: 23 AF XY: 0.594 AC XY: 19477AN XY: 32786
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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65624
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110516
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23
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19477
AN XY:
32786
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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