9-111541688-G-T
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_133464.5(ZNF483):c.753G>T(p.Arg251Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000497 in 1,609,116 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_133464.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152096Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00000813 AC: 2AN: 245876 AF XY: 0.00 show subpopulations
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1457020Hom.: 0 Cov.: 31 AF XY: 0.00000552 AC XY: 4AN XY: 724652 show subpopulations
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152096Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74288 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.753G>T (p.R251S) alteration is located in exon 6 (coding exon 5) of the ZNF483 gene. This alteration results from a G to T substitution at nucleotide position 753, causing the arginine (R) at amino acid position 251 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at