chr15-82043837-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032246.6(MEX3B):c.1033G>T(p.Gly345Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000565 in 1,592,074 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032246.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000870 AC: 2AN: 230016Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 124016
GnomAD4 exome AF: 0.00000417 AC: 6AN: 1439854Hom.: 0 Cov.: 33 AF XY: 0.00000280 AC XY: 2AN XY: 714374
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1033G>T (p.G345W) alteration is located in exon 2 (coding exon 2) of the MEX3B gene. This alteration results from a G to T substitution at nucleotide position 1033, causing the glycine (G) at amino acid position 345 to be replaced by a tryptophan (W). 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