chr19-37128613-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_144689.5(ZNF420):c.1622C>T(p.Ala541Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000154 in 1,613,312 control chromosomes in the GnomAD database, including 1 homozygotes. 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_144689.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF420 | NM_144689.5 | c.1622C>T | p.Ala541Val | missense_variant | 5/5 | ENST00000337995.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF420 | ENST00000337995.4 | c.1622C>T | p.Ala541Val | missense_variant | 5/5 | 1 | NM_144689.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 151598Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000175 AC: 44AN: 251106Hom.: 0 AF XY: 0.000169 AC XY: 23AN XY: 135706
GnomAD4 exome AF: 0.000158 AC: 231AN: 1461596Hom.: 0 Cov.: 32 AF XY: 0.000133 AC XY: 97AN XY: 727070
GnomAD4 genome AF: 0.000112 AC: 17AN: 151716Hom.: 1 Cov.: 33 AF XY: 0.000135 AC XY: 10AN XY: 74126
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 02, 2023 | The c.1622C>T (p.A541V) alteration is located in exon 5 (coding exon 3) of the ZNF420 gene. This alteration results from a C to T substitution at nucleotide position 1622, causing the alanine (A) at amino acid position 541 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at