rs146777948
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_203447.4(DOCK8):c.1090C>A(p.Pro364Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000044 in 1,612,838 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. P364R) has been classified as Likely benign.
Frequency
Consequence
NM_203447.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DOCK8 | NM_203447.4 | c.1090C>A | p.Pro364Thr | missense_variant | 10/48 | ENST00000432829.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOCK8 | ENST00000432829.7 | c.1090C>A | p.Pro364Thr | missense_variant | 10/48 | 1 | NM_203447.4 |
Frequencies
GnomAD3 genomes ? AF: 0.0000330 AC: 5AN: 151672Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251394Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135868
GnomAD4 exome AF: 0.0000452 AC: 66AN: 1461166Hom.: 0 Cov.: 29 AF XY: 0.0000647 AC XY: 47AN XY: 726942
GnomAD4 genome ? AF: 0.0000330 AC: 5AN: 151672Hom.: 0 Cov.: 32 AF XY: 0.0000540 AC XY: 4AN XY: 74090
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Mayo Clinic Laboratories, Mayo Clinic | Jun 21, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at