3-147390969-C-G
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BS1BS2
The NM_032153.6(ZIC4):āc.966G>Cā(p.Ser322Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0379 in 1,612,086 control chromosomes in the GnomAD database, including 1,389 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_032153.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0296 AC: 4499AN: 152216Hom.: 108 Cov.: 33
GnomAD3 exomes AF: 0.0299 AC: 7231AN: 241788Hom.: 149 AF XY: 0.0309 AC XY: 4092AN XY: 132390
GnomAD4 exome AF: 0.0388 AC: 56595AN: 1459752Hom.: 1281 Cov.: 31 AF XY: 0.0383 AC XY: 27814AN XY: 726086
GnomAD4 genome AF: 0.0295 AC: 4496AN: 152334Hom.: 108 Cov.: 33 AF XY: 0.0281 AC XY: 2091AN XY: 74486
ClinVar
Submissions by phenotype
not specified Benign:2
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. -
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at