NM_001011548.1:c.55C>G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001011548.1(MAGEA4):c.55C>G(p.Gln19Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000274 in 1,209,280 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 110 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001011548.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAGEA4 | NM_001011548.1 | c.55C>G | p.Gln19Glu | missense_variant | Exon 3 of 3 | ENST00000276344.6 | NP_001011548.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000224 AC: 25AN: 111602Hom.: 0 Cov.: 23 AF XY: 0.000237 AC XY: 8AN XY: 33804
GnomAD3 exomes AF: 0.000202 AC: 37AN: 182805Hom.: 0 AF XY: 0.000148 AC XY: 10AN XY: 67389
GnomAD4 exome AF: 0.000279 AC: 306AN: 1097626Hom.: 0 Cov.: 37 AF XY: 0.000281 AC XY: 102AN XY: 363202
GnomAD4 genome AF: 0.000224 AC: 25AN: 111654Hom.: 0 Cov.: 23 AF XY: 0.000236 AC XY: 8AN XY: 33866
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.55C>G (p.Q19E) alteration is located in exon 3 (coding exon 1) of the MAGEA4 gene. This alteration results from a C to G substitution at nucleotide position 55, causing the glutamine (Q) at amino acid position 19 to be replaced by a glutamic acid (E). 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