chr4-3493264-C-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_173660.5(DOK7):āc.1278C>Gā(p.Pro426=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000261 in 1,611,556 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 (ā ). Synonymous variant affecting the same amino acid position (i.e. P426P) 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.1278C>G | p.Pro426= | synonymous_variant | 7/7 | ENST00000340083.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOK7 | ENST00000340083.6 | c.1278C>G | p.Pro426= | synonymous_variant | 7/7 | 1 | NM_173660.5 | P1 | |
DOK7 | ENST00000643608.1 | c.846C>G | p.Pro282= | synonymous_variant | 5/8 | ||||
DOK7 | ENST00000515886.5 | c.348C>G | p.Pro116= | synonymous_variant | 4/4 | 2 | |||
DOK7 | ENST00000507039.5 | c.*499C>G | 3_prime_UTR_variant | 7/7 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152228Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000849 AC: 2AN: 235508Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 129518
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1459210Hom.: 0 Cov.: 96 AF XY: 0.0000303 AC XY: 22AN XY: 725846
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152346Hom.: 0 Cov.: 34 AF XY: 0.0000268 AC XY: 2AN XY: 74492
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 19, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at