Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_005577.4(LPA):c.3947+467T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0425 in 152134 control chromosomes in the gnomAD Genomes database, including 192 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Verdict is Benign. Variant got -13 ACMG points.
GnomAD3 genomes AF: 0.0425AC: 6468AN: 152134Hom.: 192Cov.: 33
Submissions by phenotype
|Benign, no assertion criteria provided||literature only||OMIM||Aug 07, 2020||- -|
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