rs114833839
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBS1BS2
The NM_203447.4(DOCK8):c.528+7C>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000447 in 1,614,126 control chromosomes in the GnomAD database, including 4 homozygotes. 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 Benign (★★).
Frequency
Consequence
NM_203447.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DOCK8 | NM_203447.4 | c.528+7C>A | splice_region_variant, intron_variant | ENST00000432829.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOCK8 | ENST00000432829.7 | c.528+7C>A | splice_region_variant, intron_variant | 1 | NM_203447.4 |
Frequencies
GnomAD3 genomes ? AF: 0.00231 AC: 351AN: 152190Hom.: 3 Cov.: 33
GnomAD3 exomes AF: 0.000537 AC: 135AN: 251452Hom.: 2 AF XY: 0.000427 AC XY: 58AN XY: 135900
GnomAD4 exome AF: 0.000254 AC: 372AN: 1461818Hom.: 2 Cov.: 31 AF XY: 0.000224 AC XY: 163AN XY: 727218
GnomAD4 genome ? AF: 0.00229 AC: 349AN: 152308Hom.: 2 Cov.: 33 AF XY: 0.00222 AC XY: 165AN XY: 74466
ClinVar
Submissions by phenotype
not specified Benign:2
Likely benign, no assertion criteria provided | clinical testing | Genetic Services Laboratory, University of Chicago | Oct 06, 2022 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 25, 2015 | 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. - |
Autosomal recessive hyper-IgE syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at