19-52365769-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001161425.2(ZNF610):c.391G>T(p.Ala131Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.865 in 1,613,880 control chromosomes in the GnomAD database, including 605,768 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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 the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_001161425.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.857 AC: 130228AN: 152044Hom.: 55908 Cov.: 32
GnomAD3 exomes AF: 0.839 AC: 210815AN: 251244Hom.: 89433 AF XY: 0.849 AC XY: 115252AN XY: 135806
GnomAD4 exome AF: 0.866 AC: 1265229AN: 1461718Hom.: 549825 Cov.: 60 AF XY: 0.868 AC XY: 630879AN XY: 727150
GnomAD4 genome AF: 0.856 AC: 130311AN: 152162Hom.: 55943 Cov.: 32 AF XY: 0.856 AC XY: 63655AN XY: 74384
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at