15-58174996-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_020980.5(AQP9):āc.455C>Gā(p.Pro152Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000322 in 1,614,190 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_020980.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AQP9 | NM_020980.5 | c.455C>G | p.Pro152Arg | missense_variant | Exon 4 of 6 | ENST00000219919.9 | NP_066190.2 | |
AQP9 | NM_001320636.1 | c.260C>G | p.Pro87Arg | missense_variant | Exon 4 of 6 | NP_001307565.1 | ||
AQP9 | NM_001320635.2 | c.455C>G | p.Pro152Arg | missense_variant | Exon 4 of 5 | NP_001307564.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251272Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135792
GnomAD4 exome AF: 0.0000322 AC: 47AN: 1461840Hom.: 0 Cov.: 31 AF XY: 0.0000303 AC XY: 22AN XY: 727220
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152350Hom.: 0 Cov.: 33 AF XY: 0.0000268 AC XY: 2AN XY: 74496
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.455C>G (p.P152R) alteration is located in exon 4 (coding exon 4) of the AQP9 gene. This alteration results from a C to G substitution at nucleotide position 455, causing the proline (P) at amino acid position 152 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