NM_001290223.2:c.62A>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001290223.2(DOCK1):c.62A>T(p.Asp21Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000558 in 1,612,508 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001290223.2 missense
Scores
Clinical Significance
Conservation
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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.62A>T | p.Asp21Val | missense_variant | Exon 2 of 52 | 1 | NM_001290223.2 | ENSP00000485033.1 | ||
DOCK1 | ENST00000280333.9 | c.62A>T | p.Asp21Val | missense_variant | Exon 2 of 52 | 1 | ENSP00000280333.6 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152220Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1460288Hom.: 0 Cov.: 30 AF XY: 0.00000551 AC XY: 4AN XY: 726436
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.62A>T (p.D21V) alteration is located in exon 2 (coding exon 2) of the DOCK1 gene. This alteration results from a A to T substitution at nucleotide position 62, causing the aspartic acid (D) at amino acid position 21 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