Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001437(ESR2):c.*39G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.323 in 151878 control chromosomes in the gnomAD Genomes database, including 8380 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Verdict is Benign. Variant got -14 ACMG points.
GnomAD3 genomes AF: 0.323AC: 49115AN: 151878Hom.: 8380Cov.: 31 GnomAD3 exomes AF: 0.310AC: 75935AN: 244898Hom.: 13063 AF XY: 0.318AC XY: 41985AN XY: 132172 GnomAD4 exome AF: 0.355AC: 511822AN: 1442300Hom.: 93852 AF XY: 0.354AC XY: 252570AN XY: 714176
Submissions by phenotype
|Benign, criteria provided, single submitter||clinical testing||GeneDx||Jul 09, 2018||- -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at