chr16-88437800-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001367624.2(ZNF469):c.10330G>A(p.Gly3444Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000502 in 1,393,318 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G3444A) 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF469 | NM_001367624.2 | c.10330G>A | p.Gly3444Arg | missense_variant | 3/3 | ENST00000565624.3 | |
ZNF469 | XM_047434810.1 | c.10330G>A | p.Gly3444Arg | missense_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF469 | ENST00000565624.3 | c.10330G>A | p.Gly3444Arg | missense_variant | 3/3 | NM_001367624.2 | A2 | ||
ZNF469 | ENST00000437464.1 | c.10246G>A | p.Gly3416Arg | missense_variant | 2/2 | 5 | P4 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.00000693 AC: 1AN: 144254Hom.: 0 AF XY: 0.0000128 AC XY: 1AN XY: 78042
GnomAD4 exome AF: 0.00000502 AC: 7AN: 1393318Hom.: 0 Cov.: 91 AF XY: 0.00000729 AC XY: 5AN XY: 686294
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at