rs768213796
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_173660.5(DOK7):c.1329C>G(p.Pro443=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000689 in 1,452,292 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. P443P) has been classified as Likely benign.
Frequency
Consequence
NM_173660.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DOK7 | NM_173660.5 | c.1329C>G | p.Pro443= | synonymous_variant | 7/7 | ENST00000340083.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOK7 | ENST00000340083.6 | c.1329C>G | p.Pro443= | synonymous_variant | 7/7 | 1 | NM_173660.5 | P1 | |
DOK7 | ENST00000643608.1 | c.897C>G | p.Pro299= | synonymous_variant | 5/8 | ||||
DOK7 | ENST00000515886.5 | c.399C>G | p.Pro133= | synonymous_variant | 4/4 | 2 | |||
DOK7 | ENST00000507039.5 | c.*550C>G | 3_prime_UTR_variant | 7/7 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1452292Hom.: 0 Cov.: 95 AF XY: 0.00000139 AC XY: 1AN XY: 721584
GnomAD4 genome ? Cov.: 34
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 | Dec 21, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at