15-58179219-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_020980.5(AQP9):āc.587T>Cā(p.Ile196Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,461,820 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AQP9 | NM_020980.5 | c.587T>C | p.Ile196Thr | missense_variant | Exon 5 of 6 | ENST00000219919.9 | NP_066190.2 | |
AQP9 | NM_001320636.1 | c.392T>C | p.Ile131Thr | missense_variant | Exon 5 of 6 | NP_001307565.1 | ||
AQP9 | NM_001320635.2 | c.495+4183T>C | intron_variant | Intron 4 of 4 | NP_001307564.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251206Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135752
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461820Hom.: 0 Cov.: 35 AF XY: 0.00000275 AC XY: 2AN XY: 727222
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.587T>C (p.I196T) alteration is located in exon 5 (coding exon 5) of the AQP9 gene. This alteration results from a T to C substitution at nucleotide position 587, causing the isoleucine (I) at amino acid position 196 to be replaced by a threonine (T). 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