Our verdict is Likely benign. Variant got -4 ACMG points: 1P and 5B. PM2_SupportingBP4_StrongBP7
The NM_000125.4(ESR1):c.975G>A(p.Pro325=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 152032 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Verdict is Likely_benign. Variant got -4 ACMG points.
GnomAD3 genomes AF: 0.00000658AC: 1AN: 152032Hom.: 0Cov.: 31 GnomAD4 exome AF: 0.00000342AC: 5AN: 1461870Hom.: 0 AF XY: 0.00000550AC XY: 4AN XY: 727232
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at