chr7-89333399-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_181646.5(ZNF804B):c.417G>C(p.Arg139Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000683 in 1,611,536 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
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 |
---|---|---|---|---|---|---|---|
ZNF804B | NM_181646.5 | c.417G>C | p.Arg139Ser | missense_variant | 4/4 | ENST00000333190.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF804B | ENST00000333190.5 | c.417G>C | p.Arg139Ser | missense_variant | 4/4 | 1 | NM_181646.5 | P1 | |
ZNF804B | ENST00000611114.1 | c.168G>C | p.Arg56Ser | missense_variant | 3/3 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 151842Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000443 AC: 11AN: 248466Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134642
GnomAD4 exome AF: 0.00000617 AC: 9AN: 1459694Hom.: 0 Cov.: 31 AF XY: 0.00000551 AC XY: 4AN XY: 726144
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 151842Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74158
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 05, 2024 | The c.417G>C (p.R139S) alteration is located in exon 4 (coding exon 4) of the ZNF804B gene. This alteration results from a G to C substitution at nucleotide position 417, causing the arginine (R) at amino acid position 139 to be replaced by a serine (S). 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