rs5959428
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 0.66 ( 18419 hom., 21223 hem., cov: 21)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.712
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.85).
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
|---|
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
|---|
Frequencies
GnomAD3 genomes 0.664 AC: 70664AN: 106415Hom.: 18430 Cov.: 21 AF XY: 0.656 AC XY: 21192AN XY: 32303
GnomAD3 genomes
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70664
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106415
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21
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21192
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32303
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.664 AC: 70677AN: 106464Hom.: 18419 Cov.: 21 AF XY: 0.656 AC XY: 21223AN XY: 32364
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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70677
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106464
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21
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21223
AN XY:
32364
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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