16-25221531-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001169.3(AQP8):c.335C>T(p.Pro112Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000483 in 1,614,140 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001169.3 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 |
---|---|---|---|---|---|---|---|---|
AQP8 | NM_001169.3 | c.335C>T | p.Pro112Leu | missense_variant | Exon 3 of 6 | ENST00000219660.6 | NP_001160.2 | |
AQP8 | XM_011545822.3 | c.338C>T | p.Pro113Leu | missense_variant | Exon 3 of 6 | XP_011544124.1 | ||
AQP8 | XM_011545823.3 | c.263+4086C>T | intron_variant | Intron 2 of 3 | XP_011544125.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AQP8 | ENST00000219660.6 | c.335C>T | p.Pro112Leu | missense_variant | Exon 3 of 6 | 1 | NM_001169.3 | ENSP00000219660.5 | ||
AQP8 | ENST00000566125.5 | c.317C>T | p.Pro106Leu | missense_variant | Exon 3 of 6 | 1 | ENSP00000454457.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000915 AC: 23AN: 251448Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135896
GnomAD4 exome AF: 0.0000486 AC: 71AN: 1461878Hom.: 0 Cov.: 31 AF XY: 0.0000578 AC XY: 42AN XY: 727238
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152262Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.335C>T (p.P112L) alteration is located in exon 3 (coding exon 3) of the AQP8 gene. This alteration results from a C to T substitution at nucleotide position 335, causing the proline (P) at amino acid position 112 to be replaced by a leucine (L). 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