chr16-25224444-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001169.3(AQP8):c.470C>T(p.Ala157Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000558 in 1,614,016 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. A157A) has been classified as Likely benign.
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.470C>T | p.Ala157Val | missense_variant | Exon 4 of 6 | ENST00000219660.6 | NP_001160.2 | |
AQP8 | XM_011545822.3 | c.473C>T | p.Ala158Val | missense_variant | Exon 4 of 6 | XP_011544124.1 | ||
AQP8 | XM_011545823.3 | c.264-2624C>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.470C>T | p.Ala157Val | missense_variant | Exon 4 of 6 | 1 | NM_001169.3 | ENSP00000219660.5 | ||
AQP8 | ENST00000566125.5 | c.452C>T | p.Ala151Val | missense_variant | Exon 4 of 6 | 1 | ENSP00000454457.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152146Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251330Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135826
GnomAD4 exome AF: 0.0000575 AC: 84AN: 1461870Hom.: 0 Cov.: 31 AF XY: 0.0000550 AC XY: 40AN XY: 727234
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152146Hom.: 0 Cov.: 33 AF XY: 0.0000673 AC XY: 5AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.470C>T (p.A157V) alteration is located in exon 4 (coding exon 4) of the AQP8 gene. This alteration results from a C to T substitution at nucleotide position 470, causing the alanine (A) at amino acid position 157 to be replaced by a valine (V). 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