rs6831659
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_173660.5(DOK7):c.1134G>A(p.Ala378=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.208 in 1,590,450 control chromosomes in the GnomAD database, including 38,311 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. A378A) has been classified as Likely benign.
Frequency
Consequence
NM_173660.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DOK7 | NM_173660.5 | c.1134G>A | p.Ala378= | synonymous_variant | 7/7 | ENST00000340083.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOK7 | ENST00000340083.6 | c.1134G>A | p.Ala378= | synonymous_variant | 7/7 | 1 | NM_173660.5 | P1 | |
DOK7 | ENST00000643608.1 | c.702G>A | p.Ala234= | synonymous_variant | 5/8 | ||||
DOK7 | ENST00000515886.5 | c.204G>A | p.Ala68= | synonymous_variant | 4/4 | 2 | |||
DOK7 | ENST00000507039.5 | c.*355G>A | 3_prime_UTR_variant | 7/7 | 2 |
Frequencies
GnomAD3 genomes AF: 0.182 AC: 27667AN: 152054Hom.: 3385 Cov.: 34
GnomAD3 exomes AF: 0.222 AC: 45117AN: 203522Hom.: 5908 AF XY: 0.224 AC XY: 25117AN XY: 112218
GnomAD4 exome AF: 0.210 AC: 302498AN: 1438278Hom.: 34931 Cov.: 113 AF XY: 0.211 AC XY: 150616AN XY: 714238
GnomAD4 genome AF: 0.182 AC: 27665AN: 152172Hom.: 3380 Cov.: 34 AF XY: 0.189 AC XY: 14091AN XY: 74404
ClinVar
Submissions by phenotype
not specified Benign:5
Benign, criteria provided, single submitter | clinical testing | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | Dec 03, 2021 | - - |
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Nov 23, 2014 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Feb 19, 2016 | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. - |
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Aug 15, 2013 | - - |
Fetal akinesia deformation sequence 1;C1850792:Congenital myasthenic syndrome 10 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at