rs505971
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 ( 16483 hom., 19612 hem., cov: 21)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
1
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.123
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.93).
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 ? AF: 0.648 AC: 69977AN: 108036Hom.: 16490 Cov.: 21 AF XY: 0.643 AC XY: 19600AN XY: 30466
GnomAD3 genomes
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108036
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21
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19600
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30466
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? Data not reliable, filtered out with message: InbreedingCoeff AF: 0.647 AC: 69976AN: 108086Hom.: 16483 Cov.: 21 AF XY: 0.642 AC XY: 19612AN XY: 30526
GnomAD4 genome
?
Data not reliable, filtered out with message: InbreedingCoeff
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69976
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108086
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21
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19612
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30526
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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