7-111808875-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001363540.2(DOCK4):c.3112G>A(p.Gly1038Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,460,654 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 (no stars).
Frequency
Consequence
NM_001363540.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DOCK4 | NM_001363540.2 | c.3112G>A | p.Gly1038Ser | missense_variant | Exon 30 of 53 | ENST00000428084.6 | NP_001350469.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460654Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726454
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
DOCK4-related disorder Uncertain:1
The DOCK4 c.3112G>A variant is predicted to result in the amino acid substitution p.Gly1038Ser. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.