rs3840880
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NR_040089.1(ALOX12-AS1):n.234-8985del variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.562 in 151,982 control chromosomes in the GnomAD database, including 24,355 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.56 ( 24355 hom., cov: 0)
Exomes 𝑓: 0.33 ( 0 hom. )
Consequence
ALOX12-AS1
NR_040089.1 intron, non_coding_transcript
NR_040089.1 intron, non_coding_transcript
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.105
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BA1
?
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.639 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALOX12-AS1 | NR_040089.1 | n.234-8985del | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALOX12-AS1 | ENST00000653385.1 | n.139+17671del | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.562 AC: 85301AN: 151858Hom.: 24331 Cov.: 0
GnomAD3 genomes
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GnomAD4 exome AF: 0.333 AC: 2AN: 6Hom.: 0 AF XY: 0.500 AC XY: 2AN XY: 4
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GnomAD4 genome ? AF: 0.562 AC: 85374AN: 151976Hom.: 24355 Cov.: 0 AF XY: 0.566 AC XY: 42042AN XY: 74288
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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