rs398123056
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM5
The NM_001651.4(AQP5):c.529A>G(p.Ile177Val) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00000616 in 1,461,512 control chromosomes in the GnomAD database, with no homozygous occurrence. 2/2 splice prediction tools predict no significant impact on normal splicing. 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. I177F) has been classified as Pathogenic.
Frequency
Consequence
NM_001651.4 missense, splice_region
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AQP5 | NM_001651.4 | c.529A>G | p.Ile177Val | missense_variant, splice_region_variant | 3/4 | ENST00000293599.7 | |
AQP5 | XM_005268838.3 | c.529A>G | p.Ile177Val | missense_variant, splice_region_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AQP5 | ENST00000293599.7 | c.529A>G | p.Ile177Val | missense_variant, splice_region_variant | 3/4 | 1 | NM_001651.4 | P1 | |
AQP5 | ENST00000553132.1 | n.518A>G | non_coding_transcript_exon_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251414Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135904
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461512Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727086
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at