X-14008990-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001042479.2(GEMIN8):c.652G>A(p.Ala218Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000019 in 1,209,135 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 10 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 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 Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GEMIN8 | NM_001042479.2 | c.652G>A | p.Ala218Thr | 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.652G>A | p.Ala218Thr | missense_variant | Exon 5 of 5 | NM_001042479.2 | ENSP00000505429.1 | |||
GEMIN8 | ENST00000398355.7 | c.652G>A | p.Ala218Thr | missense_variant | Exon 4 of 4 | 1 | ENSP00000381398.3 | |||
GEMIN8 | ENST00000380523.8 | c.652G>A | p.Ala218Thr | missense_variant | Exon 5 of 5 | 2 | ENSP00000369895.4 | |||
GEMIN8 | ENST00000477386.2 | c.652G>A | p.Ala218Thr | missense_variant | Exon 5 of 5 | 3 | ENSP00000505279.1 |
Frequencies
GnomAD3 genomes AF: 0.00000889 AC: 1AN: 112502Hom.: 0 Cov.: 22 AF XY: 0.0000289 AC XY: 1AN XY: 34650
GnomAD3 exomes AF: 0.0000545 AC: 10AN: 183432Hom.: 0 AF XY: 0.000103 AC XY: 7AN XY: 67890
GnomAD4 exome AF: 0.0000201 AC: 22AN: 1096633Hom.: 0 Cov.: 29 AF XY: 0.0000249 AC XY: 9AN XY: 362025
GnomAD4 genome AF: 0.00000889 AC: 1AN: 112502Hom.: 0 Cov.: 22 AF XY: 0.0000289 AC XY: 1AN XY: 34650
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.652G>A (p.A218T) 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 652, causing the alanine (A) at amino acid position 218 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