5-72443763-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152625.3(ZNF366):c.2228G>A(p.Gly743Asp) variant causes a missense change. The variant allele was found at a frequency of 0.0000273 in 1,612,134 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 (★).
Frequency
Consequence
NM_152625.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000802 AC: 2AN: 249510Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135348
GnomAD4 exome AF: 0.0000295 AC: 43AN: 1459900Hom.: 0 Cov.: 32 AF XY: 0.0000262 AC XY: 19AN XY: 726090
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2228G>A (p.G743D) alteration is located in exon 5 (coding exon 4) of the ZNF366 gene. This alteration results from a G to A substitution at nucleotide position 2228, causing the glycine (G) at amino acid position 743 to be replaced by an aspartic acid (D). 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