Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The NM_001437.3(ESR2):c.984G>A(p.Val328=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0661 in 152108 control chromosomes in the gnomAD Genomes database, including 674 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Verdict is Benign. Variant got -19 ACMG points.
GnomAD3 genomes AF: 0.0661AC: 10050AN: 152108Hom.: 674Cov.: 31 GnomAD3 exomes AF: 0.0667AC: 16779AN: 251436Hom.: 1557 AF XY: 0.0624AC XY: 8474AN XY: 135902 GnomAD4 exome AF: 0.0445AC: 64963AN: 1461140Hom.: 3351 AF XY: 0.0438AC XY: 31842AN XY: 726868
Submissions by phenotype
|Benign, criteria provided, single submitter||clinical testing||Invitae||Oct 27, 2022||- -|
|Benign, criteria provided, single submitter||clinical testing||GeneDx||Jul 09, 2018||This variant is associated with the following publications: (PMID: 11231990) -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at