7-142307367-AGTGTGTGTGTGTGTGTGT-AGTGTGTGTGTGTGTGTGTGTGTGTGT
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 0.023 ( 48 hom., cov: 0)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.60
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
BS1
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0229 (3356/146284) while in subpopulation NFE AF= 0.0266 (1765/66356). AF 95% confidence interval is 0.0256. There are 48 homozygotes in gnomad4. There are 1646 alleles in male gnomad4 subpopulation. Median coverage is 0. This position pass quality control queck.
BS2
High Homozygotes in GnomAd4 at 48 gene
Transcripts
RefSeq
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Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes 0.0229 AC: 3351AN: 146178Hom.: 47 Cov.: 0
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.0229 AC: 3356AN: 146284Hom.: 48 Cov.: 0 AF XY: 0.0232 AC XY: 1646AN XY: 71020
GnomAD4 genome
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0
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71020
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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