Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001618(PARP1):c.2285T>C(p.Val762Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.157 in 152050 control chromosomes in the gnomAD Genomes database, including 2589 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Verdict is Benign. Variant got -14 ACMG points.
GnomAD3 genomes AF: 0.157AC: 23915AN: 152050Hom.: 2589Cov.: 32 GnomAD3 exomes AF: 0.213AC: 53567AN: 251412Hom.: 7750 AF XY: 0.200AC XY: 27205AN XY: 135878 GnomAD4 exome AF: 0.169AC: 247339AN: 1461684Hom.: 24640 AF XY: 0.167AC XY: 121143AN XY: 727168
Submissions by phenotype
|Benign, criteria provided, single submitter||clinical testing||GeneDx||Oct 08, 2019||This variant is associated with the following publications: (PMID: 24392019, 29484706, 23633189, 15342424, 23040216, 24853559, 24489833, 22624032, 23608917, 23073772, 18716896, 23910651, 19484672, 18054108, 21037106, 20196871, 17214964) -|
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