20-33788939-C-T
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BS1BS2
The NM_001282933.2(ZNF341):c.1929C>T(p.Ile643Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0231 in 1,614,028 control chromosomes in the GnomAD database, including 475 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001282933.2 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: 0.0161 AC: 2457AN: 152170Hom.: 31 Cov.: 32
GnomAD3 exomes AF: 0.0182 AC: 4582AN: 251326Hom.: 69 AF XY: 0.0184 AC XY: 2501AN XY: 135880
GnomAD4 exome AF: 0.0239 AC: 34872AN: 1461740Hom.: 444 Cov.: 31 AF XY: 0.0234 AC XY: 16991AN XY: 727162
GnomAD4 genome AF: 0.0161 AC: 2459AN: 152288Hom.: 31 Cov.: 32 AF XY: 0.0154 AC XY: 1144AN XY: 74462
ClinVar
Submissions by phenotype
not provided Benign:2
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ZNF341-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at