13-72761421-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_014953.5(DIS3):c.2612G>A(p.Gly871Glu) variant causes a missense change. The variant allele was found at a frequency of 0.0000987 in 1,610,966 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014953.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DIS3 | NM_014953.5 | c.2612G>A | p.Gly871Glu | missense_variant | Exon 19 of 21 | ENST00000377767.9 | NP_055768.3 | |
DIS3 | NM_001128226.3 | c.2522G>A | p.Gly841Glu | missense_variant | Exon 19 of 21 | NP_001121698.1 | ||
DIS3 | NM_001322348.2 | c.2243G>A | p.Gly748Glu | missense_variant | Exon 18 of 20 | NP_001309277.1 | ||
DIS3 | NM_001322349.2 | c.2126G>A | p.Gly709Glu | missense_variant | Exon 20 of 22 | NP_001309278.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000987 AC: 15AN: 152026Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000602 AC: 15AN: 248966Hom.: 0 AF XY: 0.0000817 AC XY: 11AN XY: 134586
GnomAD4 exome AF: 0.0000987 AC: 144AN: 1458940Hom.: 0 Cov.: 31 AF XY: 0.0000965 AC XY: 70AN XY: 725702
GnomAD4 genome AF: 0.0000987 AC: 15AN: 152026Hom.: 0 Cov.: 32 AF XY: 0.0000808 AC XY: 6AN XY: 74254
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2612G>A (p.G871E) alteration is located in exon 19 (coding exon 19) of the DIS3 gene. This alteration results from a G to A substitution at nucleotide position 2612, causing the glycine (G) at amino acid position 871 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