15-58179219-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_020980.5(AQP9):āc.587T>Gā(p.Ile196Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000681 in 1,614,142 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
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AQP9 | NM_020980.5 | c.587T>G | p.Ile196Ser | missense_variant | Exon 5 of 6 | ENST00000219919.9 | NP_066190.2 | |
AQP9 | NM_001320636.1 | c.392T>G | p.Ile131Ser | missense_variant | Exon 5 of 6 | NP_001307565.1 | ||
AQP9 | NM_001320635.2 | c.495+4183T>G | intron_variant | Intron 4 of 4 | NP_001307564.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152204Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000717 AC: 18AN: 251206Hom.: 0 AF XY: 0.0000516 AC XY: 7AN XY: 135752
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461820Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 727222
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152322Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74482
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.587T>G (p.I196S) alteration is located in exon 5 (coding exon 5) of the AQP9 gene. This alteration results from a T to G substitution at nucleotide position 587, causing the isoleucine (I) at amino acid position 196 to be replaced by a serine (S). 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