10-98251693-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032211.7(LOXL4):c.1961G>A(p.Arg654Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000328 in 1,614,036 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032211.7 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152208Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251134Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135720
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461828Hom.: 0 Cov.: 31 AF XY: 0.0000248 AC XY: 18AN XY: 727218
GnomAD4 genome AF: 0.000112 AC: 17AN: 152208Hom.: 0 Cov.: 33 AF XY: 0.0000673 AC XY: 5AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1961G>A (p.R654Q) alteration is located in exon 13 (coding exon 12) of the LOXL4 gene. This alteration results from a G to A substitution at nucleotide position 1961, causing the arginine (R) at amino acid position 654 to be replaced by a glutamine (Q). 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