rs6623084
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 0.84 ( 27262 hom., 25163 hem., cov: 20)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.229
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.94).
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 0.838 AC: 89993AN: 107437Hom.: 27274 Cov.: 20 AF XY: 0.841 AC XY: 25147AN XY: 29893
GnomAD3 genomes
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89993
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107437
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20
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25147
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29893
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.837 AC: 89991AN: 107455Hom.: 27262 Cov.: 20 AF XY: 0.841 AC XY: 25163AN XY: 29921
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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89991
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107455
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20
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25163
AN XY:
29921
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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