rs1353456
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 0.63 ( 17218 hom., 20833 hem., cov: 24)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.155
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.8).
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 0.627 AC: 69417AN: 110686Hom.: 17228 Cov.: 24 AF XY: 0.632 AC XY: 20810AN XY: 32940
GnomAD3 genomes
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69417
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110686
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24
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20810
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32940
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.627 AC: 69419AN: 110738Hom.: 17218 Cov.: 24 AF XY: 0.631 AC XY: 20833AN XY: 33002
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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69419
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110738
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24
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20833
AN XY:
33002
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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