22-50744729-G-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001097.3(ACR):c.788G>A(p.Gly263Glu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001097.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249492Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135238
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.84e-7 AC: 1AN: 1461264Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 726916
GnomAD4 genome Cov.: 29
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.788G>A (p.G263E) alteration is located in exon 5 (coding exon 5) of the ACR gene. This alteration results from a G to A substitution at nucleotide position 788, causing the glycine (G) at amino acid position 263 to be replaced by a glutamic acid (E). 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