rs144592743
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS1
The NM_173660.5(DOK7):āc.812G>Cā(p.Ser271Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000319 in 1,612,756 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S271G) has been classified as Uncertain significance.
Frequency
Consequence
NM_173660.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DOK7 | NM_173660.5 | c.812G>C | p.Ser271Thr | missense_variant | 7/7 | ENST00000340083.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOK7 | ENST00000340083.6 | c.812G>C | p.Ser271Thr | missense_variant | 7/7 | 1 | NM_173660.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00187 AC: 285AN: 152194Hom.: 1 Cov.: 34
GnomAD3 exomes AF: 0.000496 AC: 123AN: 247802Hom.: 1 AF XY: 0.000267 AC XY: 36AN XY: 134690
GnomAD4 exome AF: 0.000158 AC: 231AN: 1460444Hom.: 1 Cov.: 97 AF XY: 0.000116 AC XY: 84AN XY: 726542
GnomAD4 genome ? AF: 0.00186 AC: 284AN: 152312Hom.: 1 Cov.: 34 AF XY: 0.00181 AC XY: 135AN XY: 74472
ClinVar
Submissions by phenotype
Fetal akinesia deformation sequence 1;C1850792:Congenital myasthenic syndrome 10 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 25, 2024 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 06, 2020 | - - |
DOK7-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Aug 13, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at