X-14009044-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001042479.2(GEMIN8):c.598G>A(p.Glu200Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001042479.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GEMIN8 | NM_001042479.2 | c.598G>A | p.Glu200Lys | missense_variant | Exon 5 of 5 | ENST00000680255.1 | NP_001035944.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GEMIN8 | ENST00000680255.1 | c.598G>A | p.Glu200Lys | missense_variant | Exon 5 of 5 | NM_001042479.2 | ENSP00000505429.1 | |||
GEMIN8 | ENST00000398355.7 | c.598G>A | p.Glu200Lys | missense_variant | Exon 4 of 4 | 1 | ENSP00000381398.3 | |||
GEMIN8 | ENST00000380523.8 | c.598G>A | p.Glu200Lys | missense_variant | Exon 5 of 5 | 2 | ENSP00000369895.4 | |||
GEMIN8 | ENST00000477386.2 | c.598G>A | p.Glu200Lys | missense_variant | Exon 5 of 5 | 3 | ENSP00000505279.1 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 9.11e-7 AC: 1AN: 1098059Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 1AN XY: 363413
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.598G>A (p.E200K) alteration is located in exon 5 (coding exon 3) of the GEMIN8 gene. This alteration results from a G to A substitution at nucleotide position 598, causing the glutamic acid (E) at amino acid position 200 to be replaced by a lysine (K). 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