10-126987579-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001290223.2(DOCK1):c.286C>G(p.Leu96Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001290223.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DOCK1 | ENST00000623213.2 | c.286C>G | p.Leu96Val | missense_variant | Exon 5 of 52 | 1 | NM_001290223.2 | ENSP00000485033.1 | ||
DOCK1 | ENST00000280333.9 | c.286C>G | p.Leu96Val | missense_variant | Exon 5 of 52 | 1 | ENSP00000280333.6 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.286C>G (p.L96V) alteration is located in exon 5 (coding exon 5) of the DOCK1 gene. This alteration results from a C to G substitution at nucleotide position 286, causing the leucine (L) at amino acid position 96 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.