7-30912192-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000311813.11(AQP1):c.283C>T(p.Leu95Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000093 in 1,612,336 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000311813.11 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AQP1 | NM_198098.4 | c.283C>T | p.Leu95Phe | missense_variant | 1/4 | ENST00000311813.11 | NP_932766.1 | |
AQP1 | NM_001329872.2 | c.283C>T | p.Leu95Phe | missense_variant | 1/5 | NP_001316801.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AQP1 | ENST00000311813.11 | c.283C>T | p.Leu95Phe | missense_variant | 1/4 | 1 | NM_198098.4 | ENSP00000311165 | P1 | |
AQP1 | ENST00000441328.7 | n.138C>T | non_coding_transcript_exon_variant | 1/2 | 1 | |||||
AQP1 | ENST00000652696.1 | c.283C>T | p.Leu95Phe | missense_variant | 1/5 | ENSP00000498672 | P1 | |||
AQP1 | ENST00000652692.1 | c.73C>T | p.Leu25Phe | missense_variant | 1/5 | ENSP00000498806 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152222Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250054Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135342
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1460114Hom.: 0 Cov.: 32 AF XY: 0.00000688 AC XY: 5AN XY: 726458
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152222Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 10, 2022 | The c.283C>T (p.L95F) alteration is located in exon 1 (coding exon 1) of the AQP1 gene. This alteration results from a C to T substitution at nucleotide position 283, causing the leucine (L) at amino acid position 95 to be replaced by a phenylalanine (F). 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