rs79716948
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 2P and 10B. PM2BP4_StrongBP6_ModerateBS1
The NM_001367561.1(DOCK7):c.1872-8G>T 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 0.00618 in 1,193,442 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 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 Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DOCK7 | NM_001367561.1 | c.1872-8G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000635253.2 | NP_001354490.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DOCK7 | ENST00000635253.2 | c.1872-8G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 5 | NM_001367561.1 | ENSP00000489124 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1229AN: 79662Hom.: 0 Cov.: 23 FAILED QC
GnomAD4 exome AF: 0.00618 AC: 7372AN: 1193442Hom.: 0 Cov.: 27 AF XY: 0.00711 AC XY: 4177AN XY: 587184
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0155 AC: 1234AN: 79692Hom.: 0 Cov.: 23 AF XY: 0.0162 AC XY: 615AN XY: 38028
ClinVar
Submissions by phenotype
Developmental and epileptic encephalopathy, 23 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Dec 08, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at