rs560463670
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS1
The NM_173660.5(DOK7):c.1144G>A(p.Glu382Lys) variant causes a missense change. The variant allele was found at a frequency of 0.000353 in 1,595,634 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E382A) 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.1144G>A | p.Glu382Lys | missense_variant | 7/7 | ENST00000340083.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOK7 | ENST00000340083.6 | c.1144G>A | p.Glu382Lys | missense_variant | 7/7 | 1 | NM_173660.5 | P1 | |
DOK7 | ENST00000643608.1 | c.712G>A | p.Glu238Lys | missense_variant | 5/8 | ||||
DOK7 | ENST00000515886.5 | c.214G>A | p.Glu72Lys | missense_variant | 4/4 | 2 | |||
DOK7 | ENST00000507039.5 | c.*365G>A | 3_prime_UTR_variant | 7/7 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000256 AC: 39AN: 152198Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000745 AC: 156AN: 209438Hom.: 1 AF XY: 0.000840 AC XY: 97AN XY: 115478
GnomAD4 exome AF: 0.000363 AC: 524AN: 1443318Hom.: 4 Cov.: 113 AF XY: 0.000455 AC XY: 326AN XY: 717030
GnomAD4 genome ? AF: 0.000256 AC: 39AN: 152316Hom.: 0 Cov.: 34 AF XY: 0.000309 AC XY: 23AN XY: 74488
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 | Feb 25, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at