chr8-25296564-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_024940.8(DOCK5):c.522C>T(p.Asp174Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000475 in 1,612,094 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.
Frequency
Consequence
NM_024940.8 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DOCK5 | ENST00000276440.12 | c.522C>T | p.Asp174Asp | synonymous_variant | Exon 7 of 52 | 1 | NM_024940.8 | ENSP00000276440.7 | ||
DOCK5 | ENST00000481100.5 | c.522C>T | p.Asp174Asp | synonymous_variant | Exon 7 of 11 | 1 | ENSP00000429737.1 | |||
DOCK5 | ENST00000495236.1 | n.-18C>T | upstream_gene_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.000395 AC: 60AN: 152080Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000214 AC: 53AN: 247678Hom.: 0 AF XY: 0.000164 AC XY: 22AN XY: 133822
GnomAD4 exome AF: 0.000483 AC: 705AN: 1460014Hom.: 0 Cov.: 30 AF XY: 0.000460 AC XY: 334AN XY: 726090
GnomAD4 genome AF: 0.000395 AC: 60AN: 152080Hom.: 0 Cov.: 32 AF XY: 0.000471 AC XY: 35AN XY: 74292
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at