10-5785933-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001494.4(GDI2):c.506G>A(p.Arg169Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000031 in 1,610,544 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001494.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152172Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251416Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135886
GnomAD4 exome AF: 0.0000254 AC: 37AN: 1458254Hom.: 0 Cov.: 29 AF XY: 0.0000262 AC XY: 19AN XY: 725740
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152290Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74468
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.506G>A (p.R169Q) alteration is located in exon 5 (coding exon 5) of the GDI2 gene. This alteration results from a G to A substitution at nucleotide position 506, causing the arginine (R) at amino acid position 169 to be replaced by a glutamine (Q). 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