rs508865
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 0.65 ( 16510 hom., 20996 hem., cov: 23)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
1
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.159
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
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 0.650 AC: 71436AN: 109956Hom.: 16517 Cov.: 23 AF XY: 0.650 AC XY: 20982AN XY: 32262
GnomAD3 genomes
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71436
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109956
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23
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20982
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32262
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.649 AC: 71437AN: 110006Hom.: 16510 Cov.: 23 AF XY: 0.650 AC XY: 20996AN XY: 32322
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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71437
AN:
110006
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23
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20996
AN XY:
32322
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at