rs201387914
Variant summary
Our verdict is Pathogenic. Variant got 14 ACMG points: 14P and 0B. PVS1PM2PP3_Strong
The NM_020812.4(DOCK6):c.5939+2T>G variant causes a splice donor change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,254 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 3/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_020812.4 splice_donor
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DOCK6 | NM_020812.4 | c.5939+2T>G | splice_donor_variant | ENST00000294618.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOCK6 | ENST00000294618.12 | c.5939+2T>G | splice_donor_variant | 1 | NM_020812.4 | A2 | |||
DOCK6 | ENST00000587656.6 | c.6044+2T>G | splice_donor_variant | 5 | P3 | ||||
DOCK6 | ENST00000587734.1 | c.75+1175T>G | intron_variant | 5 | |||||
DOCK6 | ENST00000586702.1 | n.842+2T>G | splice_donor_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 246000Hom.: 0 AF XY: 0.00000749 AC XY: 1AN XY: 133534
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459254Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 725610
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at