chr11-77590464-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_173039.3(AQP11):c.472C>A(p.Pro158Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000248 in 1,614,036 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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. P158A) has been classified as Uncertain significance.
Frequency
Consequence
NM_173039.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AQP11 | ENST00000313578.4 | c.472C>A | p.Pro158Thr | missense_variant | Exon 1 of 3 | 1 | NM_173039.3 | ENSP00000318770.3 | ||
AQP11 | ENST00000528638.1 | n.291-65C>A | intron_variant | Intron 1 of 3 | 1 | |||||
CLNS1A | ENST00000526761.5 | n.*156-5005G>T | intron_variant | Intron 3 of 5 | 3 | ENSP00000475218.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251470Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135918
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461860Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727228
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152176Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74344
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at