X-14009122-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001042479.2(GEMIN8):c.520G>A(p.Ala174Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000165 in 1,209,495 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. 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.520G>A | p.Ala174Thr | missense_variant | Exon 5 of 5 | ENST00000680255.1 | NP_001035944.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000888 AC: 1AN: 112589Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34741
GnomAD4 exome AF: 9.12e-7 AC: 1AN: 1096906Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 362276
GnomAD4 genome AF: 0.00000888 AC: 1AN: 112589Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34741
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.520G>A (p.A174T) 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 520, causing the alanine (A) at amino acid position 174 to be replaced by a threonine (T). 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