rs77951481
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001367624.2(ZNF469):āc.2717C>Gā(p.Pro906Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000358 in 1,395,462 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/18 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. P906L) 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.2717C>G | p.Pro906Arg | missense_variant | 3/3 | ENST00000565624.3 | |
LOC112268182 | XR_007065178.1 | n.92-65G>C | intron_variant, non_coding_transcript_variant | ||||
ZNF469 | XM_047434810.1 | c.2717C>G | p.Pro906Arg | missense_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF469 | ENST00000565624.3 | c.2717C>G | p.Pro906Arg | missense_variant | 3/3 | NM_001367624.2 | A2 | ||
ZNF469 | ENST00000437464.1 | c.2717C>G | p.Pro906Arg | missense_variant | 1/2 | 5 | P4 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.00000694 AC: 1AN: 144094Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 77926
GnomAD4 exome AF: 0.00000358 AC: 5AN: 1395462Hom.: 0 Cov.: 65 AF XY: 0.00 AC XY: 0AN XY: 687896
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at