chr12-49974352-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001652.4(AQP6):c.431C>T(p.Ala144Val) variant causes a missense change. The variant allele was found at a frequency of 0.000304 in 1,598,818 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001652.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
AQP6 | ENST00000315520.10 | c.431C>T | p.Ala144Val | missense_variant | Exon 2 of 4 | 1 | NM_001652.4 | ENSP00000320247.5 | ||
AQP6 | ENST00000489786.5 | n.2850C>T | non_coding_transcript_exon_variant | Exon 5 of 7 | 1 | |||||
AQP6 | ENST00000551733 | c.-92C>T | 5_prime_UTR_variant | Exon 4 of 6 | 3 | ENSP00000449830.1 |
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000131 AC: 32AN: 243668Hom.: 0 AF XY: 0.000114 AC XY: 15AN XY: 131666
GnomAD4 exome AF: 0.000314 AC: 454AN: 1446584Hom.: 0 Cov.: 32 AF XY: 0.000289 AC XY: 208AN XY: 718502
GnomAD4 genome AF: 0.000210 AC: 32AN: 152234Hom.: 0 Cov.: 33 AF XY: 0.000175 AC XY: 13AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.431C>T (p.A144V) alteration is located in exon 2 (coding exon 2) of the AQP6 gene. This alteration results from a C to T substitution at nucleotide position 431, causing the alanine (A) at amino acid position 144 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