Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_052872(IL17F):c.482A>G(p.His161Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0665 in 152120 control chromosomes in the gnomAD Genomes database, including 393 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Verdict is Benign. Variant got -20 ACMG points.
GnomAD3 genomes AF: 0.0665AC: 10118AN: 152120Hom.: 393Cov.: 32 GnomAD3 exomes AF: 0.0672AC: 16859AN: 250950Hom.: 667 AF XY: 0.0676AC XY: 9174AN XY: 135628 GnomAD4 exome AF: 0.0548AC: 80034AN: 1460808Hom.: 2607 AF XY: 0.0551AC XY: 40067AN XY: 726828
Submissions by phenotype
Candidiasis, familial, 6
|Benign, criteria provided, single submitter||clinical testing||Invitae||Nov 03, 2022||- -|
|Benign, criteria provided, single submitter||clinical testing||Illumina Laboratory Services, Illumina||Mar 06, 2018||This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -|
|Benign, criteria provided, single submitter||clinical testing||GeneDx||Nov 12, 2018||This variant is associated with the following publications: (PMID: 22812194, 24164796, 31616423, 31831764, 20620187, 24440568, 16630936, 20618772, 24829928, 22579472, 21615796) -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at