7-89333526-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_181646.5(ZNF804B):c.544C>T(p.Arg182Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000093 in 1,613,284 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_181646.5 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 |
---|---|---|---|---|---|---|---|
ZNF804B | NM_181646.5 | c.544C>T | p.Arg182Trp | missense_variant | 4/4 | ENST00000333190.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF804B | ENST00000333190.5 | c.544C>T | p.Arg182Trp | missense_variant | 4/4 | 1 | NM_181646.5 | P1 | |
ZNF804B | ENST00000611114.1 | c.295C>T | p.Arg99Trp | missense_variant | 3/3 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 151980Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250516Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135434
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461304Hom.: 0 Cov.: 32 AF XY: 0.00000825 AC XY: 6AN XY: 726950
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 151980Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74232
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 29, 2023 | The c.544C>T (p.R182W) alteration is located in exon 4 (coding exon 4) of the ZNF804B gene. This alteration results from a C to T substitution at nucleotide position 544, causing the arginine (R) at amino acid position 182 to be replaced by a tryptophan (W). 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