rs771121025
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_024940.8(DOCK5):c.44C>A(p.Ala15Glu) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,412 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 predict no significant impact on normal splicing. 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. A15V) has been classified as Uncertain significance.
Frequency
Consequence
NM_024940.8 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DOCK5 | NM_024940.8 | c.44C>A | p.Ala15Glu | missense_variant, splice_region_variant | Exon 2 of 52 | ENST00000276440.12 | NP_079216.4 | |
DOCK5 | NM_001322810.2 | c.44C>A | p.Ala15Glu | missense_variant, splice_region_variant | Exon 2 of 4 | NP_001309739.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DOCK5 | ENST00000276440.12 | c.44C>A | p.Ala15Glu | missense_variant, splice_region_variant | Exon 2 of 52 | 1 | NM_024940.8 | ENSP00000276440.7 | ||
DOCK5 | ENST00000481100.5 | c.44C>A | p.Ala15Glu | missense_variant, splice_region_variant | Exon 2 of 11 | 1 | ENSP00000429737.1 | |||
DOCK5 | ENST00000410074.5 | c.44C>A | p.Ala15Glu | missense_variant, splice_region_variant | Exon 2 of 4 | 2 | ENSP00000387036.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460412Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726454
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.