chr9-111542377-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_133464.5(ZNF483):c.1442C>T(p.Ser481Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000459 in 1,613,822 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_133464.5 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 |
---|---|---|---|---|---|---|---|
ZNF483 | NM_133464.5 | c.1442C>T | p.Ser481Leu | missense_variant | 6/6 | ENST00000309235.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF483 | ENST00000309235.6 | c.1442C>T | p.Ser481Leu | missense_variant | 6/6 | 1 | NM_133464.5 | P1 | |
ZNF483 | ENST00000358151.8 | c.721+8024C>T | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000171 AC: 26AN: 151976Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000478 AC: 12AN: 251156Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135786
GnomAD4 exome AF: 0.0000328 AC: 48AN: 1461846Hom.: 0 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 727222
GnomAD4 genome ? AF: 0.000171 AC: 26AN: 151976Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74222
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 03, 2021 | The c.1442C>T (p.S481L) alteration is located in exon 6 (coding exon 5) of the ZNF483 gene. This alteration results from a C to T substitution at nucleotide position 1442, causing the serine (S) at amino acid position 481 to be replaced by a leucine (L). 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