5-77077701-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032367.4(ZBED3):c.178G>A(p.Gly60Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000838 in 1,193,944 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_032367.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZBED3 | ENST00000255198.3 | c.178G>A | p.Gly60Arg | missense_variant | Exon 3 of 3 | 1 | NM_032367.4 | ENSP00000255198.2 | ||
ENSG00000285000 | ENST00000646704.1 | n.1809+15899C>T | intron_variant | Intron 13 of 15 | ENSP00000495089.1 | |||||
ZBED3 | ENST00000511587.1 | c.178G>A | p.Gly60Arg | missense_variant | Exon 2 of 2 | 3 | ENSP00000427487.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 8.38e-7 AC: 1AN: 1193944Hom.: 0 Cov.: 31 AF XY: 0.00000172 AC XY: 1AN XY: 581518
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.178G>A (p.G60R) alteration is located in exon 3 (coding exon 1) of the ZBED3 gene. This alteration results from a G to A substitution at nucleotide position 178, causing the glycine (G) at amino acid position 60 to be replaced by an arginine (R). 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