20-33732088-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001282933.2(ZNF341):c.31+36C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.177 in 1,222,268 control chromosomes in the GnomAD database, including 23,121 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001282933.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.146 AC: 21792AN: 149772Hom.: 2337 Cov.: 31
GnomAD3 exomes AF: 0.195 AC: 633AN: 3238Hom.: 77 AF XY: 0.203 AC XY: 349AN XY: 1720
GnomAD4 exome AF: 0.182 AC: 194960AN: 1072382Hom.: 20782 Cov.: 30 AF XY: 0.184 AC XY: 93463AN XY: 508660
GnomAD4 genome AF: 0.145 AC: 21783AN: 149886Hom.: 2339 Cov.: 31 AF XY: 0.149 AC XY: 10875AN XY: 73170
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 25% of patients studied by a panel of primary immunodeficiencies. Number of patients: 22. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at