rs5981088
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 0.56 ( 12736 hom., 18077 hem., cov: 23)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.239
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.92).
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 0.557 AC: 61477AN: 110374Hom.: 12724 Cov.: 23 AF XY: 0.552 AC XY: 18032AN XY: 32678
GnomAD3 genomes
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61477
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110374
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23
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18032
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32678
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.557 AC: 61534AN: 110429Hom.: 12736 Cov.: 23 AF XY: 0.552 AC XY: 18077AN XY: 32743
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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61534
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110429
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23
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18077
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32743
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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