chr9-382656-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_203447.4(DOCK8):āc.2749G>Cā(p.Glu917Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000136 in 1,614,192 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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. E917K) has been classified as Uncertain significance.
Frequency
Consequence
NM_203447.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DOCK8 | NM_203447.4 | c.2749G>C | p.Glu917Gln | missense_variant | 22/48 | ENST00000432829.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOCK8 | ENST00000432829.7 | c.2749G>C | p.Glu917Gln | missense_variant | 22/48 | 1 | NM_203447.4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000439 AC: 11AN: 250716Hom.: 0 AF XY: 0.0000664 AC XY: 9AN XY: 135628
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461872Hom.: 0 Cov.: 31 AF XY: 0.0000261 AC XY: 19AN XY: 727236
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152320Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74480
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at