19-52366106-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001161425.2(ZNF610):c.728G>A(p.Arg243His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000166 in 1,611,942 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001161425.2 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 |
---|---|---|---|---|---|---|---|
ZNF610 | NM_001161425.2 | c.728G>A | p.Arg243His | missense_variant | 6/6 | ENST00000403906.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF610 | ENST00000403906.8 | c.728G>A | p.Arg243His | missense_variant | 6/6 | 1 | NM_001161425.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000173 AC: 26AN: 150438Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000108 AC: 27AN: 251048Hom.: 0 AF XY: 0.0000884 AC XY: 12AN XY: 135742
GnomAD4 exome AF: 0.000164 AC: 240AN: 1461382Hom.: 0 Cov.: 65 AF XY: 0.000142 AC XY: 103AN XY: 726966
GnomAD4 genome ? AF: 0.000179 AC: 27AN: 150560Hom.: 0 Cov.: 33 AF XY: 0.000109 AC XY: 8AN XY: 73562
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 16, 2021 | The c.728G>A (p.R243H) alteration is located in exon 6 (coding exon 4) of the ZNF610 gene. This alteration results from a G to A substitution at nucleotide position 728, causing the arginine (R) at amino acid position 243 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