2-218266547-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001087.5(AAMP):āc.575G>Cā(p.Gly192Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000114 in 1,613,656 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001087.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000172 AC: 43AN: 250302Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135498
GnomAD4 exome AF: 0.000112 AC: 163AN: 1461486Hom.: 1 Cov.: 32 AF XY: 0.000114 AC XY: 83AN XY: 727044
GnomAD4 genome AF: 0.000138 AC: 21AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.575G>C (p.G192A) alteration is located in exon 5 (coding exon 5) of the AAMP gene. This alteration results from a G to C substitution at nucleotide position 575, causing the glycine (G) at amino acid position 192 to be replaced by an alanine (A). 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