3-49684189-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_020998.4(MST1):c.2017G>A(p.Gly673Ser) variant causes a missense, splice region change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020998.4 missense, splice_region
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 |
---|---|---|---|---|---|---|---|---|
MST1 | NM_020998.4 | c.2017G>A | p.Gly673Ser | missense_variant, splice_region_variant | Exon 18 of 18 | ENST00000449682.3 | NP_066278.3 | |
APEH | NM_001640.4 | c.*847C>T | downstream_gene_variant | ENST00000296456.10 | NP_001631.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MST1 | ENST00000449682.3 | c.2017G>A | p.Gly673Ser | missense_variant, splice_region_variant | Exon 18 of 18 | 1 | NM_020998.4 | ENSP00000414287.2 | ||
APEH | ENST00000296456.10 | c.*847C>T | downstream_gene_variant | 1 | NM_001640.4 | ENSP00000296456.5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000489 AC: 12AN: 245150Hom.: 0 AF XY: 0.0000451 AC XY: 6AN XY: 133040
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000411 AC: 6AN: 1458824Hom.: 0 Cov.: 35 AF XY: 0.00000689 AC XY: 5AN XY: 725692
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2017G>A (p.G673S) alteration is located in exon 18 (coding exon 18) of the MST1 gene. This alteration results from a G to A substitution at nucleotide position 2017, causing the glycine (G) at amino acid position 673 to be replaced by a serine (S). 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