rs104894004
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM5
The NM_198098.4(AQP1):c.113C>A(p.Pro38Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000547 in 1,461,232 control chromosomes in the GnomAD database, including 1 homozygotes. 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. P38L) has been classified as Pathogenic.
Frequency
Consequence
NM_198098.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AQP1 | NM_198098.4 | c.113C>A | p.Pro38Gln | missense_variant | 1/4 | ENST00000311813.11 | |
AQP1 | NM_001329872.2 | c.113C>A | p.Pro38Gln | missense_variant | 1/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AQP1 | ENST00000311813.11 | c.113C>A | p.Pro38Gln | missense_variant | 1/4 | 1 | NM_198098.4 | P1 | |
AQP1 | ENST00000652696.1 | c.113C>A | p.Pro38Gln | missense_variant | 1/5 | P1 | |||
AQP1 | ENST00000441328.7 | upstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461232Hom.: 1 Cov.: 32 AF XY: 0.00000550 AC XY: 4AN XY: 726948
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at