NM_001366683.2:c.474C>T
Variant summary
Our verdict is Benign. The variant received -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_001366683.2(DOCK9):c.474C>T(p.Val158Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.166 in 1,612,214 control chromosomes in the GnomAD database, including 23,051 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001366683.2 synonymous
Scores
Clinical Significance
Conservation
Publications
- keratoconusInheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
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ACMG classification
Our verdict: Benign. The variant received -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DOCK9 | NM_001366683.2 | c.474C>T | p.Val158Val | synonymous_variant | Exon 5 of 53 | ENST00000682017.1 | NP_001353612.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DOCK9 | ENST00000682017.1 | c.474C>T | p.Val158Val | synonymous_variant | Exon 5 of 53 | NM_001366683.2 | ENSP00000507034.1 |
Frequencies
GnomAD3 genomes AF: 0.149 AC: 22616AN: 152032Hom.: 1850 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.181 AC: 45108AN: 248996 AF XY: 0.181 show subpopulations
GnomAD4 exome AF: 0.167 AC: 244533AN: 1460064Hom.: 21200 Cov.: 31 AF XY: 0.169 AC XY: 122546AN XY: 726410 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.149 AC: 22633AN: 152150Hom.: 1851 Cov.: 33 AF XY: 0.149 AC XY: 11115AN XY: 74384 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at