chr11-77590014-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_173039.3(AQP11):c.22C>G(p.Arg8Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000444 in 1,507,530 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R8P) has been classified as Uncertain significance.
Frequency
Consequence
NM_173039.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AQP11 | NM_173039.3 | c.22C>G | p.Arg8Gly | missense_variant | 1/3 | ENST00000313578.4 | |
AQP11 | NM_001363477.2 | c.22C>G | p.Arg8Gly | missense_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AQP11 | ENST00000313578.4 | c.22C>G | p.Arg8Gly | missense_variant | 1/3 | 1 | NM_173039.3 | P1 | |
AQP11 | ENST00000528638.1 | n.290+334C>G | intron_variant, non_coding_transcript_variant | 1 | |||||
CLNS1A | ENST00000526761.5 | c.*156-4555G>C | intron_variant, NMD_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152104Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000188 AC: 3AN: 159648Hom.: 0 AF XY: 0.0000113 AC XY: 1AN XY: 88760
GnomAD4 exome AF: 0.0000450 AC: 61AN: 1355426Hom.: 0 Cov.: 31 AF XY: 0.0000375 AC XY: 25AN XY: 666038
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152104Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74284
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 27, 2022 | The c.22C>G (p.R8G) alteration is located in exon 1 (coding exon 1) of the AQP11 gene. This alteration results from a C to G substitution at nucleotide position 22, causing the arginine (R) at amino acid position 8 to be replaced by a glycine (G). 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