1-15578905-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024758.5(AGMAT):c.674G>A(p.Arg225Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000273 in 1,614,020 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024758.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AGMAT | NM_024758.5 | c.674G>A | p.Arg225Gln | missense_variant | Exon 4 of 7 | ENST00000375826.4 | NP_079034.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000243 AC: 37AN: 152136Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000211 AC: 53AN: 251256Hom.: 0 AF XY: 0.000169 AC XY: 23AN XY: 135812
GnomAD4 exome AF: 0.000276 AC: 404AN: 1461884Hom.: 0 Cov.: 31 AF XY: 0.000289 AC XY: 210AN XY: 727244
GnomAD4 genome AF: 0.000243 AC: 37AN: 152136Hom.: 0 Cov.: 32 AF XY: 0.000256 AC XY: 19AN XY: 74296
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.674G>A (p.R225Q) alteration is located in exon 4 (coding exon 4) of the AGMAT gene. This alteration results from a G to A substitution at nucleotide position 674, causing the arginine (R) at amino acid position 225 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