10-126977966-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001290223.2(DOCK1):c.149C>T(p.Thr50Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000174 in 1,613,714 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.149C>T | p.Thr50Met | missense_variant | Exon 3 of 52 | 1 | NM_001290223.2 | ENSP00000485033.1 | ||
DOCK1 | ENST00000280333.9 | c.149C>T | p.Thr50Met | missense_variant | Exon 3 of 52 | 1 | ENSP00000280333.6 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152094Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000441 AC: 11AN: 249194Hom.: 0 AF XY: 0.0000592 AC XY: 8AN XY: 135198
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461620Hom.: 0 Cov.: 30 AF XY: 0.0000206 AC XY: 15AN XY: 727102
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152094Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74294
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.149C>T (p.T50M) alteration is located in exon 3 (coding exon 3) of the DOCK1 gene. This alteration results from a C to T substitution at nucleotide position 149, causing the threonine (T) at amino acid position 50 to be replaced by a methionine (M). 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