rs7220870
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000574640.1(ALOX15):c.-272G>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.219 in 533,576 control chromosomes in the GnomAD database, including 13,483 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
Consequence
ENST00000574640.1 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
use as main transcript | n.4641923C>A | intergenic_region |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ALOX15 | ENST00000574640.1 | c.-272G>T | 5_prime_UTR_premature_start_codon_gain_variant | 1/14 | 2 | ENSP00000460483.1 | ||||
ALOX15 | ENST00000574640.1 | c.-272G>T | 5_prime_UTR_variant | 1/14 | 2 | ENSP00000460483.1 | ||||
ALOX15 | ENST00000570836.6 | c.-25-247G>T | intron_variant | 2 | ENSP00000458832.1 |
Frequencies
GnomAD3 genomes AF: 0.204 AC: 30940AN: 151782Hom.: 3296 Cov.: 31
GnomAD4 exome AF: 0.225 AC: 85966AN: 381676Hom.: 10182 Cov.: 4 AF XY: 0.231 AC XY: 46411AN XY: 201298
GnomAD4 genome AF: 0.204 AC: 30969AN: 151900Hom.: 3301 Cov.: 31 AF XY: 0.206 AC XY: 15260AN XY: 74208
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at