19-43607765-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_182498.4(ZNF428):c.419G>A(p.Arg140Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000324 in 1,606,834 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182498.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF428 | NM_182498.4 | c.419G>A | p.Arg140Gln | missense_variant | 3/3 | ENST00000300811.8 | |
ZNF428 | XM_047438168.1 | c.419G>A | p.Arg140Gln | missense_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF428 | ENST00000300811.8 | c.419G>A | p.Arg140Gln | missense_variant | 3/3 | 1 | NM_182498.4 | P1 | |
ZNF428 | ENST00000598676.1 | c.518G>A | p.Arg173Gln | missense_variant | 4/4 | 5 | |||
SRRM5 | ENST00000607544.1 | c.-95-4262C>T | intron_variant | 2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 151818Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000342 AC: 8AN: 233874Hom.: 0 AF XY: 0.0000474 AC XY: 6AN XY: 126686
GnomAD4 exome AF: 0.0000316 AC: 46AN: 1454900Hom.: 0 Cov.: 36 AF XY: 0.0000359 AC XY: 26AN XY: 723348
GnomAD4 genome AF: 0.0000395 AC: 6AN: 151934Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74256
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at