rs223679
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 0.79 ( 25092 hom., 17961 hem., cov: 17)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -2.05
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.96).
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 0.790 AC: 79833AN: 100993Hom.: 25097 Cov.: 17 AF XY: 0.735 AC XY: 17923AN XY: 24373
GnomAD3 genomes
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17
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17923
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.790 AC: 79860AN: 101034Hom.: 25092 Cov.: 17 AF XY: 0.735 AC XY: 17961AN XY: 24426
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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79860
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101034
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17
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17961
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24426
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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