X-14009128-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001042479.2(GEMIN8):c.514G>A(p.Val172Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000926 in 1,209,038 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 341 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 Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GEMIN8 | NM_001042479.2 | c.514G>A | p.Val172Met | missense_variant | Exon 5 of 5 | ENST00000680255.1 | NP_001035944.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000710 AC: 80AN: 112708Hom.: 0 Cov.: 23 AF XY: 0.000689 AC XY: 24AN XY: 34846
GnomAD3 exomes AF: 0.000769 AC: 141AN: 183241Hom.: 0 AF XY: 0.000901 AC XY: 61AN XY: 67723
GnomAD4 exome AF: 0.000949 AC: 1040AN: 1096330Hom.: 0 Cov.: 30 AF XY: 0.000876 AC XY: 317AN XY: 361730
GnomAD4 genome AF: 0.000710 AC: 80AN: 112708Hom.: 0 Cov.: 23 AF XY: 0.000689 AC XY: 24AN XY: 34846
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.514G>A (p.V172M) 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 514, causing the valine (V) at amino acid position 172 to be replaced by a methionine (M). 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