12-49951041-G-C
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_Strong
The NM_000486.6(AQP2):āc.211G>Cā(p.Val71Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000657 in 152,250 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. V71M) has been classified as Pathogenic.
Frequency
Consequence
NM_000486.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AQP2 | NM_000486.6 | c.211G>C | p.Val71Leu | missense_variant | 1/4 | ENST00000199280.4 | NP_000477.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AQP2 | ENST00000199280.4 | c.211G>C | p.Val71Leu | missense_variant | 1/4 | 1 | NM_000486.6 | ENSP00000199280.3 | ||
AQP2 | ENST00000550862.1 | c.211G>C | p.Val71Leu | missense_variant | 1/3 | 5 | ENSP00000450022.1 | |||
AQP2 | ENST00000551526.5 | n.211G>C | non_coding_transcript_exon_variant | 1/6 | 5 | ENSP00000447148.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152250Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152250Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74378
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at