rs5945680
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
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 0.23 ( 2501 hom., 6012 hem., cov: 20)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.549
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.93).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.306 is higher than 0.05.
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 0.232 AC: 24409AN: 105399Hom.: 2503 Cov.: 20 AF XY: 0.207 AC XY: 6002AN XY: 28961
GnomAD3 genomes
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24409
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20
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6002
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28961
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.231 AC: 24412AN: 105452Hom.: 2501 Cov.: 20 AF XY: 0.207 AC XY: 6012AN XY: 29016
GnomAD4 genome
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24412
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105452
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20
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6012
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29016
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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