chr22-50744954-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001097.3(ACR):c.1013G>A(p.Arg338Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000309 in 1,423,346 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001097.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACR | NM_001097.3 | c.1013G>A | p.Arg338Gln | missense_variant | 5/5 | ENST00000216139.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACR | ENST00000216139.10 | c.1013G>A | p.Arg338Gln | missense_variant | 5/5 | 1 | NM_001097.3 | P1 | |
ACR | ENST00000527761.1 | downstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000203 AC: 2AN: 98762Hom.: 0 Cov.: 12
GnomAD3 exomes AF: 0.0000687 AC: 9AN: 130966Hom.: 0 AF XY: 0.0000437 AC XY: 3AN XY: 68620
GnomAD4 exome AF: 0.0000317 AC: 42AN: 1324524Hom.: 0 Cov.: 31 AF XY: 0.0000309 AC XY: 20AN XY: 647326
GnomAD4 genome ? AF: 0.0000202 AC: 2AN: 98822Hom.: 0 Cov.: 12 AF XY: 0.0000219 AC XY: 1AN XY: 45720
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 27, 2023 | The c.1013G>A (p.R338Q) 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 1013, causing the arginine (R) at amino acid position 338 to be replaced by a glutamine (Q). 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