11-77590427-G-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_173039.3(AQP11):c.435G>T(p.Gln145His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00576 in 1,614,088 control chromosomes in the GnomAD database, including 40 homozygotes. 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 Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q145P) has been classified as Likely benign.
Frequency
Consequence
NM_173039.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AQP11 | NM_173039.3 | c.435G>T | p.Gln145His | missense_variant | 1/3 | ENST00000313578.4 | |
AQP11 | NM_001363477.2 | c.435G>T | p.Gln145His | missense_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AQP11 | ENST00000313578.4 | c.435G>T | p.Gln145His | missense_variant | 1/3 | 1 | NM_173039.3 | P1 | |
AQP11 | ENST00000528638.1 | n.291-102G>T | intron_variant, non_coding_transcript_variant | 1 | |||||
CLNS1A | ENST00000526761.5 | c.*156-4968C>A | intron_variant, NMD_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00433 AC: 659AN: 152130Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.00395 AC: 993AN: 251434Hom.: 5 AF XY: 0.00406 AC XY: 552AN XY: 135922
GnomAD4 exome AF: 0.00591 AC: 8641AN: 1461840Hom.: 37 Cov.: 33 AF XY: 0.00582 AC XY: 4229AN XY: 727232
GnomAD4 genome ? AF: 0.00432 AC: 658AN: 152248Hom.: 3 Cov.: 32 AF XY: 0.00414 AC XY: 308AN XY: 74438
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jan 01, 2023 | AQP11: BP4, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at