2-224770558-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014689.3(DOCK10):c.6292A>G(p.Lys2098Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000117 in 1,613,650 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014689.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152214Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000128 AC: 32AN: 249062Hom.: 0 AF XY: 0.000126 AC XY: 17AN XY: 135096
GnomAD4 exome AF: 0.000116 AC: 169AN: 1461436Hom.: 0 Cov.: 30 AF XY: 0.000114 AC XY: 83AN XY: 727038
GnomAD4 genome AF: 0.000125 AC: 19AN: 152214Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.6292A>G (p.K2098E) alteration is located in exon 54 (coding exon 54) of the DOCK10 gene. This alteration results from a A to G substitution at nucleotide position 6292, causing the lysine (K) at amino acid position 2098 to be replaced by a glutamic acid (E). 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