rs115183769
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001367624.2(ZNF469):c.3650C>G(p.Pro1217Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000286 in 1,398,040 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P1217L) has been classified as Likely benign.
Frequency
Consequence
NM_001367624.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.3650C>G | p.Pro1217Arg | missense_variant | 3/3 | ENST00000565624.3 | |
ZNF469 | XM_047434810.1 | c.3650C>G | p.Pro1217Arg | missense_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF469 | ENST00000565624.3 | c.3650C>G | p.Pro1217Arg | missense_variant | 3/3 | NM_001367624.2 | A2 | ||
ZNF469 | ENST00000437464.1 | c.3566C>G | p.Pro1189Arg | missense_variant | 2/2 | 5 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000654 AC: 1AN: 152964Hom.: 0 AF XY: 0.0000123 AC XY: 1AN XY: 81434
GnomAD4 exome AF: 0.00000286 AC: 4AN: 1398040Hom.: 0 Cov.: 97 AF XY: 0.00000145 AC XY: 1AN XY: 689518
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at