rs766498095
Variant summary
Our verdict is Uncertain significance. The variant received 1 ACMG points: 2P and 1B. PM2BP4
The NM_001031803.2(LLGL2):c.155G>A(p.Arg52His) variant causes a missense change. The variant allele was found at a frequency of 0.0000106 in 1,610,118 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R52C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001031803.2 missense
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152218Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00000805 AC: 2AN: 248340 AF XY: 0.00000743 show subpopulations
GnomAD4 exome AF: 0.00000892 AC: 13AN: 1457782Hom.: 0 Cov.: 32 AF XY: 0.00000689 AC XY: 5AN XY: 725484 show subpopulations
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152336Hom.: 0 Cov.: 32 AF XY: 0.0000268 AC XY: 2AN XY: 74494 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.155G>A (p.R52H) alteration is located in exon 3 (coding exon 2) of the LLGL2 gene. This alteration results from a G to A substitution at nucleotide position 155, causing the arginine (R) at amino acid position 52 to be replaced by a histidine (H). 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