15-58173104-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_020980.5(AQP9):c.275G>A(p.Cys92Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000136 in 1,613,874 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 (★).
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.275G>A | p.Cys92Tyr | missense_variant | Exon 3 of 6 | ENST00000219919.9 | NP_066190.2 | |
AQP9 | NM_001320636.1 | c.80G>A | p.Cys27Tyr | missense_variant | Exon 3 of 6 | NP_001307565.1 | ||
AQP9 | NM_001320635.2 | c.275G>A | p.Cys92Tyr | missense_variant | Exon 3 of 5 | NP_001307564.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251352Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135840
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461706Hom.: 0 Cov.: 32 AF XY: 0.0000151 AC XY: 11AN XY: 727138
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152168Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.275G>A (p.C92Y) alteration is located in exon 3 (coding exon 3) of the AQP9 gene. This alteration results from a G to A substitution at nucleotide position 275, causing the cysteine (C) at amino acid position 92 to be replaced by a tyrosine (Y). 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