rs773909054
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004925.5(AQP3):c.34G>T(p.Gly12Trp) variant causes a missense change. The variant allele was found at a frequency of 0.000000686 in 1,457,188 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G12R) has been classified as Uncertain significance.
Frequency
Consequence
NM_004925.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AQP3 | NM_004925.5 | c.34G>T | p.Gly12Trp | missense_variant | Exon 1 of 6 | ENST00000297991.6 | NP_004916.1 | |
AQP3 | NM_001318144.2 | c.34G>T | p.Gly12Trp | missense_variant | Exon 1 of 5 | NP_001305073.1 | ||
AQP3 | XM_047423348.1 | c.34G>T | p.Gly12Trp | missense_variant | Exon 1 of 4 | XP_047279304.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000425 AC: 1AN: 235310Hom.: 0 AF XY: 0.00000782 AC XY: 1AN XY: 127950
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457188Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 724426
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at