chr9-328006-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_203447.4(DOCK8):c.895-16T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.684 in 1,610,546 control chromosomes in the GnomAD database, including 377,736 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_203447.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.671 AC: 102042AN: 151980Hom.: 34403 Cov.: 33
GnomAD3 exomes AF: 0.688 AC: 172761AN: 251148Hom.: 59602 AF XY: 0.692 AC XY: 93944AN XY: 135772
GnomAD4 exome AF: 0.685 AC: 999366AN: 1458448Hom.: 343321 Cov.: 34 AF XY: 0.688 AC XY: 499504AN XY: 725798
GnomAD4 genome AF: 0.671 AC: 102099AN: 152098Hom.: 34415 Cov.: 33 AF XY: 0.671 AC XY: 49921AN XY: 74364
ClinVar
Submissions by phenotype
not specified Benign:5
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This variant is classified as Benign based on local population frequency. This variant was detected in 90% of patients studied by a panel of primary immunodeficiencies. Number of patients: 86. Only high quality variants are reported. -
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Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
not provided Benign:2
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Combined immunodeficiency due to DOCK8 deficiency Benign:1
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Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at