15-58166742-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_020980.5(AQP9):āc.181A>Gā(p.Asn61Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,658 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.181A>G | p.Asn61Asp | missense_variant | Exon 2 of 6 | ENST00000219919.9 | NP_066190.2 | |
AQP9 | NM_001320635.2 | c.181A>G | p.Asn61Asp | missense_variant | Exon 2 of 5 | NP_001307564.1 | ||
AQP9 | NM_001320636.1 | c.-15A>G | 5_prime_UTR_variant | Exon 2 of 6 | NP_001307565.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461658Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727124
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.181A>G (p.N61D) alteration is located in exon 2 (coding exon 2) of the AQP9 gene. This alteration results from a A to G substitution at nucleotide position 181, causing the asparagine (N) at amino acid position 61 to be replaced by an aspartic acid (D). 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