rs773882812
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM2BP6_Very_Strong
The NM_001367561.1(DOCK7):c.6381-6_6381-5insT variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000484 in 1,612,542 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001367561.1 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DOCK7 | NM_001367561.1 | c.6381-6_6381-5insT | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000635253.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOCK7 | ENST00000635253.2 | c.6381-6_6381-5insT | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 5 | NM_001367561.1 |
Frequencies
GnomAD3 genomes ? AF: 0.000395 AC: 60AN: 152024Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000260 AC: 65AN: 250258Hom.: 0 AF XY: 0.000273 AC XY: 37AN XY: 135316
GnomAD4 exome AF: 0.000494 AC: 721AN: 1460518Hom.: 0 Cov.: 30 AF XY: 0.000469 AC XY: 341AN XY: 726592
GnomAD4 genome ? AF: 0.000395 AC: 60AN: 152024Hom.: 0 Cov.: 32 AF XY: 0.000364 AC XY: 27AN XY: 74262
ClinVar
Submissions by phenotype
Developmental and epileptic encephalopathy, 23 Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 17, 2024 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Apr 11, 2023 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Sep 01, 2021 | - - |
DOCK7-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Aug 28, 2019 | This variant is classified as likely 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