17-4632927-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001140.5(ALOX15):c.1474G>A(p.Asp492Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000248 in 1,613,978 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001140.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ALOX15 | ENST00000293761.8 | c.1474G>A | p.Asp492Asn | missense_variant | Exon 11 of 14 | 1 | NM_001140.5 | ENSP00000293761.3 | ||
ALOX15 | ENST00000570836.6 | c.1474G>A | p.Asp492Asn | missense_variant | Exon 12 of 15 | 2 | ENSP00000458832.1 | |||
ALOX15 | ENST00000574640.1 | c.1357G>A | p.Asp453Asn | missense_variant | Exon 11 of 14 | 2 | ENSP00000460483.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152124Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000954 AC: 24AN: 251450Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135894
GnomAD4 exome AF: 0.0000260 AC: 38AN: 1461854Hom.: 0 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 727236
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152124Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1474G>A (p.D492N) alteration is located in exon 11 (coding exon 11) of the ALOX15 gene. This alteration results from a G to A substitution at nucleotide position 1474, causing the aspartic acid (D) at amino acid position 492 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at