NM_032246.6:c.1067G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032246.6(MEX3B):c.1067G>A(p.Cys356Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000977 in 1,432,856 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032246.6 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 Cov.: 33
GnomAD3 exomes AF: 0.00000447 AC: 1AN: 223728Hom.: 0 AF XY: 0.00000830 AC XY: 1AN XY: 120430
GnomAD4 exome AF: 0.00000977 AC: 14AN: 1432856Hom.: 0 Cov.: 33 AF XY: 0.0000127 AC XY: 9AN XY: 710180
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1067G>A (p.C356Y) alteration is located in exon 2 (coding exon 2) of the MEX3B gene. This alteration results from a G to A substitution at nucleotide position 1067, causing the cysteine (C) at amino acid position 356 to be replaced by a tyrosine (Y). 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