rs2232861
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The ENST00000415388.5(UPB1):c.-218G>A variant causes a 5 prime UTR, NMD transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0113 in 612,180 control chromosomes in the GnomAD database, including 88 homozygotes. 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 0.020 ( 51 hom., cov: 33)
Exomes 𝑓: 0.0086 ( 37 hom. )
Consequence
UPB1
ENST00000415388.5 5_prime_UTR, NMD_transcript
ENST00000415388.5 5_prime_UTR, NMD_transcript
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.230
Genes affected
UPB1 (HGNC:16297): (beta-ureidopropionase 1) This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.76).
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.0196 (2986/152360) while in subpopulation AFR AF= 0.0514 (2138/41578). AF 95% confidence interval is 0.0496. There are 51 homozygotes in gnomad4. There are 1460 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 51 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UPB1 | ENST00000415388.5 | c.-218G>A | 5_prime_UTR_variant, NMD_transcript_variant | 1/9 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0196 AC: 2977AN: 152242Hom.: 51 Cov.: 33
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GnomAD4 exome AF: 0.00856 AC: 3937AN: 459820Hom.: 37 Cov.: 3 AF XY: 0.00847 AC XY: 2056AN XY: 242724
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GnomAD4 genome ? AF: 0.0196 AC: 2986AN: 152360Hom.: 51 Cov.: 33 AF XY: 0.0196 AC XY: 1460AN XY: 74510
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3478
ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at