6-129599253-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_033515.3(ARHGAP18):c.1676G>A(p.Arg559Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000133 in 1,582,570 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_033515.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000461 AC: 7AN: 151954Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000979 AC: 14AN: 1430616Hom.: 0 Cov.: 30 AF XY: 0.0000112 AC XY: 8AN XY: 711818
GnomAD4 genome AF: 0.0000461 AC: 7AN: 151954Hom.: 0 Cov.: 32 AF XY: 0.0000674 AC XY: 5AN XY: 74194
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1676G>A (p.R559Q) alteration is located in exon 12 (coding exon 12) of the ARHGAP18 gene. This alteration results from a G to A substitution at nucleotide position 1676, causing the arginine (R) at amino acid position 559 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