1-163482981-T-TAC
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BS1BS2
No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0037 ( 4 hom., cov: 0)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.228
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
BS1
Variant frequency is greater than expected in population sas. gnomad4 allele frequency = 0.00374 (565/151080) while in subpopulation SAS AF= 0.02 (96/4794). AF 95% confidence interval is 0.0168. There are 4 homozygotes in gnomad4. There are 291 alleles in male gnomad4 subpopulation. Median coverage is 0. This position pass quality control queck.
BS2
High Homozygotes in GnomAd4 at 4 gene
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
|---|
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
|---|
Frequencies
GnomAD3 genomes 0.00376 AC: 567AN: 150972Hom.: 5 Cov.: 0
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.00374 AC: 565AN: 151080Hom.: 4 Cov.: 0 AF XY: 0.00394 AC XY: 291AN XY: 73794
GnomAD4 genome
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565
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0
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291
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73794
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at