22-50739722-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001097.3(ACR):c.310G>A(p.Gly104Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000246 in 1,542,560 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACR | ENST00000216139.10 | c.310G>A | p.Gly104Arg | missense_variant | Exon 3 of 5 | 1 | NM_001097.3 | ENSP00000216139.5 | ||
ACR | ENST00000533930.1 | n.350G>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 1 | |||||
ACR | ENST00000529621.1 | c.310G>A | p.Gly104Arg | missense_variant | Exon 3 of 4 | 5 | ENSP00000435120.1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000124 AC: 24AN: 194316Hom.: 0 AF XY: 0.000126 AC XY: 13AN XY: 103086
GnomAD4 exome AF: 0.0000223 AC: 31AN: 1390376Hom.: 0 Cov.: 31 AF XY: 0.0000263 AC XY: 18AN XY: 684450
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.310G>A (p.G104R) alteration is located in exon 3 (coding exon 3) of the ACR gene. This alteration results from a G to A substitution at nucleotide position 310, causing the glycine (G) at amino acid position 104 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