16-88436838-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001367624.2(ZNF469):āc.9368G>Cā(p.Arg3123Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000847 in 1,533,978 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R3123H) has been classified as Likely benign.
Frequency
Consequence
NM_001367624.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF469 | NM_001367624.2 | c.9368G>C | p.Arg3123Pro | missense_variant | 3/3 | ENST00000565624.3 | |
ZNF469 | XM_047434810.1 | c.9368G>C | p.Arg3123Pro | missense_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF469 | ENST00000565624.3 | c.9368G>C | p.Arg3123Pro | missense_variant | 3/3 | NM_001367624.2 | A2 | ||
ZNF469 | ENST00000437464.1 | c.9284G>C | p.Arg3095Pro | missense_variant | 2/2 | 5 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152230Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000149 AC: 2AN: 133782Hom.: 0 AF XY: 0.0000137 AC XY: 1AN XY: 72968
GnomAD4 exome AF: 0.00000434 AC: 6AN: 1381630Hom.: 0 Cov.: 91 AF XY: 0.00 AC XY: 0AN XY: 681162
GnomAD4 genome AF: 0.0000459 AC: 7AN: 152348Hom.: 0 Cov.: 34 AF XY: 0.0000403 AC XY: 3AN XY: 74500
ClinVar
Submissions by phenotype
Cardiovascular phenotype Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 13, 2023 | The p.R3095P variant (also known as c.9284G>C), located in coding exon 2 of the ZNF469 gene, results from a G to C substitution at nucleotide position 9284. The arginine at codon 3095 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at