chr4-3493389-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173660.5(DOK7):āc.1403G>Cā(p.Gly468Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000000693 in 1,442,532 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G468D) has been classified as Uncertain significance.
Frequency
Consequence
NM_173660.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DOK7 | NM_173660.5 | c.1403G>C | p.Gly468Ala | missense_variant | 7/7 | ENST00000340083.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOK7 | ENST00000340083.6 | c.1403G>C | p.Gly468Ala | missense_variant | 7/7 | 1 | NM_173660.5 | P1 | |
DOK7 | ENST00000643608.1 | c.971G>C | p.Gly324Ala | missense_variant | 5/8 | ||||
DOK7 | ENST00000515886.5 | c.473G>C | p.Gly158Ala | missense_variant | 4/4 | 2 | |||
DOK7 | ENST00000507039.5 | c.*624G>C | 3_prime_UTR_variant | 7/7 | 2 |
Frequencies
GnomAD3 genomes Cov.: 35
GnomAD4 exome AF: 6.93e-7 AC: 1AN: 1442532Hom.: 0 Cov.: 88 AF XY: 0.00000140 AC XY: 1AN XY: 716168
GnomAD4 genome Cov.: 35
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at