X-54810182-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_177433.3(MAGED2):c.506G>A(p.Arg169Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000173 in 1,159,186 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_177433.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAGED2 | NM_177433.3 | c.506G>A | p.Arg169Gln | missense_variant | 3/13 | ENST00000375068.6 | |
MAGED2 | NM_014599.6 | c.506G>A | p.Arg169Gln | missense_variant | 3/13 | ||
MAGED2 | NM_201222.3 | c.506G>A | p.Arg169Gln | missense_variant | 3/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAGED2 | ENST00000375068.6 | c.506G>A | p.Arg169Gln | missense_variant | 3/13 | 1 | NM_177433.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000897 AC: 1AN: 111518Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33720
GnomAD4 exome AF: 9.55e-7 AC: 1AN: 1047668Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 332066
GnomAD4 genome AF: 0.00000897 AC: 1AN: 111518Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33720
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 13, 2023 | The c.506G>A (p.R169Q) alteration is located in exon 3 (coding exon 2) of the MAGED2 gene. This alteration results from a G to A substitution at nucleotide position 506, causing the arginine (R) at amino acid position 169 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