7-99479691-T-C
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_213603.3(ZNF789):c.55T>C(p.Tyr19His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000279 in 1,610,762 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_213603.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152244Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000161 AC: 4AN: 247938 AF XY: 0.0000149 show subpopulations
GnomAD4 exome AF: 0.0000302 AC: 44AN: 1458518Hom.: 0 Cov.: 30 AF XY: 0.0000331 AC XY: 24AN XY: 725672 show subpopulations
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152244Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74402 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.55T>C (p.Y19H) alteration is located in exon 3 (coding exon 2) of the ZNF789 gene. This alteration results from a T to C substitution at nucleotide position 55, causing the tyrosine (Y) at amino acid position 19 to be replaced by a histidine (H). 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