Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001321103(SLC4A7):c.*2242G>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 0.44 in 151730 control chromosomes in the gnomAD Genomes database, including 15122 homozygotes. 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 Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.440AC: 66738AN: 151730Hom.: 15122Cov.: 33 GnomAD4 exome AF: 0.402AC: 165AN: 410Hom.: 32 AF XY: 0.360AC XY: 90AN XY: 250
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at