rs223678
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 0.72 ( 20997 hom., 7581 hem., cov: 13)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.89
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.97).
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 0.00 AC: 61412AN: 84988Hom.: 21004 Cov.: 13 AF XY: 0.501 AC XY: 7553AN XY: 15066 FAILED QC
GnomAD3 genomes
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61412
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84988
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13
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7553
AN XY:
15066
FAILED QC
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.722 AC: 61424AN: 85023Hom.: 20997 Cov.: 13 AF XY: 0.501 AC XY: 7581AN XY: 15117
GnomAD4 genome
Data not reliable, filtered out with message: AS_VQSR;InbreedingCoeff
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61424
AN:
85023
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13
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7581
AN XY:
15117
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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