15-73927265-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_005576.4(LOXL1):āc.482C>Gā(p.Ser161Trp) variant causes a missense change. The variant allele was found at a frequency of 0.00000069 in 1,449,586 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S161L) has been classified as Benign.
Frequency
Consequence
NM_005576.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000439 AC: 1AN: 227598Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 125570
GnomAD4 exome AF: 6.90e-7 AC: 1AN: 1449586Hom.: 0 Cov.: 36 AF XY: 0.00 AC XY: 0AN XY: 721406
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at