7-149847903-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001099220.3(ZNF862):c.410G>A(p.Arg137Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000117 in 1,454,570 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R137W) has been classified as Uncertain significance.
Frequency
Consequence
NM_001099220.3 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 |
---|---|---|---|---|---|---|---|
ZNF862 | NM_001099220.3 | c.410G>A | p.Arg137Gln | missense_variant | 4/8 | ENST00000223210.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF862 | ENST00000223210.5 | c.410G>A | p.Arg137Gln | missense_variant | 4/8 | 5 | NM_001099220.3 | P1 | |
ZNF862 | ENST00000460379.1 | c.158G>A | p.Arg53Gln | missense_variant | 4/4 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000258 AC: 6AN: 232962Hom.: 0 AF XY: 0.00000791 AC XY: 1AN XY: 126386
GnomAD4 exome AF: 0.0000117 AC: 17AN: 1454570Hom.: 0 Cov.: 32 AF XY: 0.0000124 AC XY: 9AN XY: 722934
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 13, 2022 | The c.410G>A (p.R137Q) alteration is located in exon 4 (coding exon 4) of the ZNF862 gene. This alteration results from a G to A substitution at nucleotide position 410, causing the arginine (R) at amino acid position 137 to be replaced by a glutamine (Q). 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