Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_018662(DISC1):c.2110A>T(p.Ser704Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.285 in 151696 control chromosomes in the gnomAD Genomes database, including 6428 homozygotes. In-silico tool predicts a benign outcome for this variant. 9/14 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.285AC: 43233AN: 151696Hom.: 6428Cov.: 31 GnomAD3 exomes AF: 0.255AC: 62618AN: 245122Hom.: 8825 AF XY: 0.260AC XY: 34624AN XY: 133156 GnomAD4 exome AF: 0.277AC: 403925AN: 1459998Hom.: 57584 AF XY: 0.278AC XY: 201633AN XY: 726138
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at