chr19-52613222-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_018300.4(ZNF83):c.1343G>A(p.Arg448Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000134 in 1,613,248 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018300.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF83 | NM_001105549.2 | c.1343G>A | p.Arg448Gln | missense_variant | Exon 6 of 6 | NP_001099019.1 | ||
ZNF83 | NM_001105550.2 | c.1343G>A | p.Arg448Gln | missense_variant | Exon 5 of 5 | NP_001099020.1 | ||
ZNF83 | NM_001105551.2 | c.1343G>A | p.Arg448Gln | missense_variant | Exon 5 of 5 | NP_001099021.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000856 AC: 13AN: 151850Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000598 AC: 15AN: 251008Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135640
GnomAD4 exome AF: 0.000139 AC: 203AN: 1461398Hom.: 0 Cov.: 31 AF XY: 0.000125 AC XY: 91AN XY: 726986
GnomAD4 genome AF: 0.0000856 AC: 13AN: 151850Hom.: 0 Cov.: 33 AF XY: 0.0000809 AC XY: 6AN XY: 74180
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1343G>A (p.R448Q) alteration is located in exon 6 (coding exon 1) of the ZNF83 gene. This alteration results from a G to A substitution at nucleotide position 1343, causing the arginine (R) at amino acid position 448 to be replaced by a glutamine (Q). 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