chrX-77830864-TACA-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PM4_Supporting
The NM_001367916.1(MAGT1):c.930_932delTGT(p.Val311del) variant causes a disruptive inframe deletion change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000191 in 1,046,619 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001367916.1 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAGT1 | NM_001367916.1 | c.930_932delTGT | p.Val311del | disruptive_inframe_deletion | Exon 9 of 10 | ENST00000618282.5 | NP_001354845.1 | |
MAGT1 | NM_032121.5 | c.1026_1028delTGT | p.Val343del | disruptive_inframe_deletion | Exon 9 of 10 | NP_115497.4 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome AF: 0.00000191 AC: 2AN: 1046619Hom.: 0 AF XY: 0.00000304 AC XY: 1AN XY: 328589
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Uncertain:1
This variant, c.1026_1028del, results in the deletion of 1 amino acid(s) of the MAGT1 protein (p.Val343del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MAGT1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at