19-1555924-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_203304.4(MEX3D):c.1595G>A(p.Arg532His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000921 in 1,193,764 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_203304.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000268 AC: 4AN: 149404Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000670 AC: 7AN: 1044360Hom.: 0 Cov.: 34 AF XY: 0.0000121 AC XY: 6AN XY: 494390
GnomAD4 genome AF: 0.0000268 AC: 4AN: 149404Hom.: 0 Cov.: 32 AF XY: 0.0000274 AC XY: 2AN XY: 72878
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1595G>A (p.R532H) alteration is located in exon 2 (coding exon 2) of the MEX3D gene. This alteration results from a G to A substitution at nucleotide position 1595, causing the arginine (R) at amino acid position 532 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