rs398123057
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP5BP4
The ENST00000293599.7(AQP5):c.367A>G(p.Asn123Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N123K) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000293599.7 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AQP5 | NM_001651.4 | c.367A>G | p.Asn123Asp | missense_variant | 2/4 | ENST00000293599.7 | NP_001642.1 | |
AQP5 | XM_005268838.3 | c.367A>G | p.Asn123Asp | missense_variant | 2/5 | XP_005268895.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AQP5 | ENST00000293599.7 | c.367A>G | p.Asn123Asp | missense_variant | 2/4 | 1 | NM_001651.4 | ENSP00000293599 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Palmoplantar keratoderma, Bothnian type Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 08, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at