19-44130996-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013362.4(ZNF225):c.382G>C(p.Asp128His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,732 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_013362.4 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 |
---|---|---|---|---|---|---|---|
ZNF225 | NM_013362.4 | c.382G>C | p.Asp128His | missense_variant | 5/5 | ENST00000262894.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF225 | ENST00000262894.11 | c.382G>C | p.Asp128His | missense_variant | 5/5 | 1 | NM_013362.4 | P1 | |
ZNF225 | ENST00000590612.1 | c.382G>C | p.Asp128His | missense_variant | 4/4 | 1 | P1 | ||
ZNF225 | ENST00000592780.5 | c.*163G>C | 3_prime_UTR_variant | 6/6 | 5 | ||||
ZNF225 | ENST00000589155.5 | downstream_gene_variant | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249720Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135454
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461732Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727150
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 29, 2024 | The c.382G>C (p.D128H) alteration is located in exon 5 (coding exon 4) of the ZNF225 gene. This alteration results from a G to C substitution at nucleotide position 382, causing the aspartic acid (D) at amino acid position 128 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