2-224770617-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014689.3(DOCK10):c.6233G>A(p.Arg2078Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000415 in 1,613,886 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R2078G) has been classified as Uncertain significance.
Frequency
Consequence
NM_014689.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 248530Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134858
GnomAD4 exome AF: 0.0000342 AC: 50AN: 1461562Hom.: 0 Cov.: 30 AF XY: 0.0000206 AC XY: 15AN XY: 727080
GnomAD4 genome AF: 0.000112 AC: 17AN: 152324Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74486
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.6233G>A (p.R2078Q) alteration is located in exon 54 (coding exon 54) of the DOCK10 gene. This alteration results from a G to A substitution at nucleotide position 6233, causing the arginine (R) at amino acid position 2078 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