10-98251091-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.2174G>A(p.Arg725Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000347 in 1,613,902 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
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000131 AC: 20AN: 152158Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000676 AC: 17AN: 251344Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135838
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461744Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 727176
GnomAD4 genome AF: 0.000131 AC: 20AN: 152158Hom.: 0 Cov.: 33 AF XY: 0.000215 AC XY: 16AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2174G>A (p.R725Q) alteration is located in exon 14 (coding exon 13) of the LOXL4 gene. This alteration results from a G to A substitution at nucleotide position 2174, causing the arginine (R) at amino acid position 725 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