Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000685(AGTR1):c.*86A>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.206 in 152074 control chromosomes in the gnomAD Genomes database, including 4181 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.206AC: 31344AN: 152074Hom.: 4181Cov.: 32 GnomAD3 exomes AF: 0.227AC: 56561AN: 248638Hom.: 7763 AF XY: 0.223AC XY: 30159AN XY: 135076 GnomAD4 exome AF: 0.269AC: 373676AN: 1386606Hom.: 54567 AF XY: 0.264AC XY: 183361AN XY: 694336
Submissions by phenotype
Essential hypertension, genetic;CN305377:Renal tubular dysgenesis of genetic origin
|Likely benign, criteria provided, single submitter||clinical testing||Fulgent Genetics, Fulgent Genetics||Aug 16, 2021||- -|
Renal tubular dysgenesis
|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||Jun 18, 2021||This variant is associated with the following publications: (PMID: 17668390, 22237156, 21638051, 20525211, 19021695, 22475523, 18985387, 20703234, 19236533, 19620885, 21799445, 17588946, 21771600, 20026870, 21436209, 22392878, 20594303, 20361261, 21657802, 25603901, 22664914, 8021009, 23615648, 30920415, 27016615, 26283679) -|
Hypertension, essential, susceptibility to
|risk factor, no assertion criteria provided||literature only||OMIM||Aug 01, 2007||- -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at