7-65399229-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_152626.4(ZNF92):āc.1115A>Gā(p.Asp372Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,613,178 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_152626.4 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 |
---|---|---|---|---|---|---|---|
ZNF92 | NM_152626.4 | c.1115A>G | p.Asp372Gly | missense_variant | 4/4 | ENST00000328747.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF92 | ENST00000328747.12 | c.1115A>G | p.Asp372Gly | missense_variant | 4/4 | 1 | NM_152626.4 | P2 | |
ZNF92 | ENST00000357512.3 | c.1019A>G | p.Asp340Gly | missense_variant | 3/3 | 1 | A2 | ||
ZNF92 | ENST00000450302.2 | c.908A>G | p.Asp303Gly | missense_variant | 3/3 | 1 | |||
ZNF92 | ENST00000431504.1 | c.887A>G | p.Asp296Gly | missense_variant | 2/2 | 1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151998Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000282 AC: 7AN: 248292Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134796
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461180Hom.: 0 Cov.: 34 AF XY: 0.00000413 AC XY: 3AN XY: 726876
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151998Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74264
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 17, 2023 | The c.1115A>G (p.D372G) alteration is located in exon 4 (coding exon 4) of the ZNF92 gene. This alteration results from a A to G substitution at nucleotide position 1115, causing the aspartic acid (D) at amino acid position 372 to be replaced by a glycine (G). 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