22-31292331-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_052880.5(PIK3IP1):c.14G>T(p.Trp5Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000155 in 1,614,050 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_052880.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PIK3IP1 | NM_052880.5 | c.14G>T | p.Trp5Leu | missense_variant | Exon 1 of 6 | ENST00000215912.10 | NP_443112.2 | |
PIK3IP1 | NM_001135911.1 | c.14G>T | p.Trp5Leu | missense_variant | Exon 1 of 5 | NP_001129383.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152216Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251418Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135880
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461834Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 727212
GnomAD4 genome AF: 0.000112 AC: 17AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.14G>T (p.W5L) alteration is located in exon 1 (coding exon 1) of the PIK3IP1 gene. This alteration results from a G to T substitution at nucleotide position 14, causing the tryptophan (W) at amino acid position 5 to be replaced by a leucine (L). 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