rs1635216
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 0.62 ( 15282 hom., 20609 hem., cov: 24)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.634
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.0).
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 0.623 AC: 69075AN: 110874Hom.: 15295 Cov.: 24 AF XY: 0.622 AC XY: 20590AN XY: 33124
GnomAD3 genomes
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69075
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110874
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24
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20590
AN XY:
33124
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.623 AC: 69071AN: 110928Hom.: 15282 Cov.: 24 AF XY: 0.621 AC XY: 20609AN XY: 33188
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
AF:
AC:
69071
AN:
110928
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Cov.:
24
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20609
AN XY:
33188
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ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at