chr3-51090271-G-C
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP2BP4_Strong
The NM_004947.5(DOCK3):āc.633G>Cā(p.Met211Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000557 in 1,598,684 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004947.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DOCK3 | NM_004947.5 | c.633G>C | p.Met211Ile | missense_variant | 9/53 | ENST00000266037.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOCK3 | ENST00000266037.10 | c.633G>C | p.Met211Ile | missense_variant | 9/53 | 1 | NM_004947.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152112Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000755 AC: 17AN: 225172Hom.: 0 AF XY: 0.0000742 AC XY: 9AN XY: 121340
GnomAD4 exome AF: 0.0000422 AC: 61AN: 1446454Hom.: 0 Cov.: 30 AF XY: 0.0000404 AC XY: 29AN XY: 717968
GnomAD4 genome AF: 0.000184 AC: 28AN: 152230Hom.: 0 Cov.: 31 AF XY: 0.000188 AC XY: 14AN XY: 74432
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jul 01, 2024 | DOCK3: PM2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at