X-75784147-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_138703.5(MAGEE2):c.905G>A(p.Gly302Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000894 in 111,864 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138703.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000894 AC: 1AN: 111864Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34034
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000894 AC: 1AN: 111864Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34034
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.905G>A (p.G302D) alteration is located in exon 1 (coding exon 1) of the MAGEE2 gene. This alteration results from a G to A substitution at nucleotide position 905, causing the glycine (G) at amino acid position 302 to be replaced by an aspartic acid (D). 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