rs199606134
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_173660.5(DOK7):āc.1225C>Gā(p.Arg409Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,459,476 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R409C) 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DOK7 | NM_173660.5 | c.1225C>G | p.Arg409Gly | missense_variant | 7/7 | ENST00000340083.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOK7 | ENST00000340083.6 | c.1225C>G | p.Arg409Gly | missense_variant | 7/7 | 1 | NM_173660.5 | P1 | |
DOK7 | ENST00000643608.1 | c.793C>G | p.Arg265Gly | missense_variant | 5/8 | ||||
DOK7 | ENST00000515886.5 | c.295C>G | p.Arg99Gly | missense_variant | 4/4 | 2 | |||
DOK7 | ENST00000507039.5 | c.*446C>G | 3_prime_UTR_variant | 7/7 | 2 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.00000417 AC: 1AN: 239908Hom.: 0 AF XY: 0.00000761 AC XY: 1AN XY: 131388
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1459476Hom.: 0 Cov.: 96 AF XY: 0.00000413 AC XY: 3AN XY: 725994
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at