22-50739456-A-G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM1PM2PP3_Moderate
The NM_001097.3(ACR):āc.263A>Gā(p.His88Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000013 in 1,613,906 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
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
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACR | ENST00000216139.10 | c.263A>G | p.His88Arg | missense_variant | Exon 2 of 5 | 1 | NM_001097.3 | ENSP00000216139.5 | ||
ACR | ENST00000533930.1 | n.303A>G | non_coding_transcript_exon_variant | Exon 2 of 3 | 1 | |||||
ACR | ENST00000529621.1 | c.263A>G | p.His88Arg | missense_variant | Exon 2 of 4 | 5 | ENSP00000435120.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152228Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251330Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135848
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461678Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 727130
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.263A>G (p.H88R) alteration is located in exon 2 (coding exon 2) of the ACR gene. This alteration results from a A to G substitution at nucleotide position 263, causing the histidine (H) at amino acid position 88 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