X-14020459-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001042479.2(GEMIN8):āc.91G>Cā(p.Ala31Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000498 in 1,205,692 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A31S) has been classified as Benign.
Frequency
Consequence
NM_001042479.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GEMIN8 | NM_001042479.2 | c.91G>C | p.Ala31Pro | missense_variant | Exon 4 of 5 | ENST00000680255.1 | NP_001035944.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000893 AC: 1AN: 112025Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34185
GnomAD4 exome AF: 0.00000457 AC: 5AN: 1093667Hom.: 0 Cov.: 28 AF XY: 0.00000557 AC XY: 2AN XY: 359173
GnomAD4 genome AF: 0.00000893 AC: 1AN: 112025Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34185
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at